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Support Group for Hi Risk NT Results #40


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#51 kyliewilson

Posted 10 September 2012 - 04:50 PM

I guess I need to join this group, I have my combined screening test results which indicate a higher risk for Trisomy 21, 1:220 age 33.

Our 12 week scan was perfect, normal fold of 1.7mm nasal bone found measuring 2.8mm and baby measuring perfectly at 6.5cm.

My bloods however are not good, High HCG 2.1mom and low Papp-a .33mom, Nuchal Translucency 1.1  giving us a 1:220 chance of Down Syndrome for my age 33. I'm really  worried about the blood results.

This baby was conceived using IVF with a natural cycle frozen embryo  transfer, I have read IVF drugs can throw bloods out but I haven't had  any IVF drugs since March.

Can the blood results just be your normal level? I'm booked in for an  amnio in 3 weeks, I don't know how I'm going to cope for the remaining  time, I just feel sick with worry

#52 MrsBobby

Posted 10 September 2012 - 07:46 PM

Not really sure about the bloods but just try and stay positive! Stress isn't good for the baby and you have a 219:220 chance that the baby is perfectly healthy! I keep trying to tell myself that too! We have a 1:175 chance of DS and still need to wait 2 weeks and 2 days for the amnio (no I'm not counting)... The first few days after we got told the news were scary but it's better now, I think it was also the shock of being so happy to see the baby and being on an absolute high and then getting the big big bad news!! Let's just hope that our little ones turn out to be healthy!

#53 just roses

Posted 10 September 2012 - 07:56 PM

QUOTE (kyliewilson @ 10/09/2012, 04:50 PM) <{POST_SNAPBACK}>
This baby was conceived using IVF with a natural cycle frozen embryo  transfer, I have read IVF drugs can throw bloods out but I haven't had  any IVF drugs since March.

Can the blood results just be your normal level? I'm booked in for an  amnio in 3 weeks, I don't know how I'm going to cope for the remaining  time, I just feel sick with worry

I think the drugs could still be a factor in the blood results. It's also been published (somewhere, can't find the link now but it was a researcher in WA, I think) that girl babies can throw the blood work off too.

I would take great comfort in your perfect scan. I presume it didn't show up any soft markers for DS? Was there a nasal bone? Both good signs.

Try to remember also that, while technically 'high risk' a 1:220 probability of something happening is still statistically very low. That's a teensy tiny fraction of one percent. You wouldn't bet on a horse with those odds!

I have been through all this. Perfect scan at 12 weeks, dodgy bloods and a risk of 1:134 for Tri 21. I'd also been on fertility drugs and - as it happened - was having a little girl. I decided against further testing, but instead booked my morphology scan with a well regarded professor of fetal medicine. That scan was perfect too, with absolutely no soft markers for DS. So not definitive in ruling it out, but good enough for me. DD was born - perfectly healthy - at full term.

Best of luck!

#54 PeanutButterTurtle

Posted 10 September 2012 - 08:05 PM

Cyaira, MrsBobby and Kylie - welcome welcome...even if it's somewhere you don't really want to be!

Cyaira - I totally understand your shock! Our T21 risk is 1:50 - I was not expecting that phone call, given that I'm just 25, and Yoda had a perfect NT measurement and a lovely heart rate of 164bpm. My bloods are what skewed the results, my HCG was 4.2 and Papp-a 0.6. I have heard that low papp-a can be an indicator of placental problems later on down the track, but I'm not sure if it's coincidental or not!

MrsBobby - Sorry to hear of your result, and good luck for the amnio! It sounds like your Ob is extremely supportive, and keeping positive is the best thing to do I think.

Kylie - I found the wait for the amnio was worse than the actual test itself! Once it was over, i was like a weight was lifted from my shoulders. The thought of a two week wait for results didn't bother me in the slightest, I just got on with things. Whatever you do, don't google! You'll likely hear only of horror stories, and in reality it wasn't that bad. Didn't hurt, was just a bit uncomfortable. The best thing I did was a) step away from Google! and b) keep busy!

AFM, my amnio was two weeks ago and I was meant to get the results today. I haven't got them yet! I had one missed call on my phone all day (of course it was while I was in the loo!), but it was a private number and didn't leave a message, so I have no idea if it was the hospital or not. Even though there's no clinic tomorrow, I'm going to give the hospital a call and see if they can at least tell me if the results are available. It's starting to get to me now, I feel like I can't get excited about what's going on and that's quite upsetting.

#55 cletus

Posted 10 September 2012 - 08:19 PM

Cyaira - I had low PAPP-A, can't remember the level, but i think it was lower than yours (gave me a risk of 1:45 for T21 - had Amnio, it was negative.)

I'm getting regular growth scans to monitor bub's growth due to the concern over placental problems as you mentioned. My OB told me there might be nothing wrong at all - all the low PAPP-A does is indicate there 'might' be a problem, it's not definitive.

But from what I've been told, most placental problems don't really kick in until the 3rd trimester. I've been told I could have a really small baby or it could be even bigger than my son was (4.6kgs). So basically they have no idea - it just means you are classified as high risk and get constant monitoring.

#56 fifyfofum

Posted 10 September 2012 - 08:45 PM

Hi guys,
I am 13 weeks pregnant with twin and will be having the NT on thursday (13w 2 days twA, 12w 6days twB)

I have noticed that the reliablility for twins of this test isnt as accurate. Is this correct? I asked if i was  getting the blood test too as i heard for twins this can confuse the results and the guy didnt even know what i was talking about.

I'm 33 so have higher risk than what i did with my child 10 years ago!! i just wasnt sure if it was work getting it done if its going to worry me more. Does any one have any experience with this and what would you suggest?

I couldnt go through with amino as the risk of miscarriage doubles in twin pregnancies and i couldnt live with myself if something happened.

Thanks so so much for your help.... hopefully ill stop worrying about it!!
Fi

#57 just roses

Posted 10 September 2012 - 09:55 PM

QUOTE (fifyfofum @ 10/09/2012, 08:45 PM) <{POST_SNAPBACK}>
Hi guys,
I am 13 weeks pregnant with twin and will be having the NT on thursday (13w 2 days twA, 12w 6days twB)

I have noticed that the reliablility for twins of this test isnt as accurate. Is this correct? I asked if i was  getting the blood test too as i heard for twins this can confuse the results and the guy didnt even know what i was talking about.

I'm 33 so have higher risk than what i did with my child 10 years ago!! i just wasnt sure if it was work getting it done if its going to worry me more. Does any one have any experience with this and what would you suggest?

I couldnt go through with amino as the risk of miscarriage doubles in twin pregnancies and i couldnt live with myself if something happened.

Thanks so so much for your help.... hopefully ill stop worrying about it!!
Fi

Don't do it!

By all means, have a scan and check on your babies' development. But if you don't get the blood test, then you won't get a combined NT risk ratio.

But that's fine. All they'll be able to give you is a number. Nothing definite. Not a diagnosis. Just a number. And I do believe that it's not as accurate with twins.

From my experience - as one who wasn't willing to take on the (albeit small) risk of an amnio - it was NOT worth the stress of having the NT. I'd never do it again.


#58 Apples

Posted 10 September 2012 - 10:17 PM

Hi all, especially those new to the group... its not a great place to be, but the support is great.

Fi: sorry I don't know about the twin thing... my SIL had twins and I know that she wouldn't have a test done (because girl twin had issues) because she didn't want to risk the boy twin.  In the end it is all good with both, girl had operation at a few weeks old.

Midstudentcatie: don't they know how much we need to get those results when they tell us they will be available? Mine told me it would be early last week... they didn't ring until 4:30 on Wednesday!
Hope you can get through and get some answers.

MrsBobby: it sure is a rollercoaster of emotions!

My update:  Not good news I'm afraid... looks like we have something that may be a first in Aus and maybe the world... there is an extra part (of significant size) of the 2nd chromosome attached to the second X chromosome.  So 3 versions of the 2nd chromosome instead of 2.  (Very complicated I know)
They took bloods from me and DH, to see if that would give any clues, is it likely to happen again, etc.
They also talked about the option of having the amnio as well to rule out that the cells were not actually from the baby (because the CVS is from the placenta and not the baby).  They also did a very quick US to check that the baby still has a heartbeat.  I said I could feel the baby moving, so I'm pretty sure about that!

But in actual fact, based on the lab results, the NT scan, the neck measurements, etc... it is highly likely that the baby will have physical and/or mental deformaties.

If I wait for the amnio, then I will be 18 weeks before the results are in and I won't be able to terminate any more, would need to deliver.

The thing is, I don't think I could do it... make that decision to end my baby's life.
So at this stage I want to go for the amnio option to absolutely rule everything else out... and as horrible as this sounds... hope that nature takes its course so I don't have to make the decision myself.  We were told that it is likely that it would happen by 20 weeks anyway...
I think my hubby wants me to make the decision now, because the longer we leave it the more obvious this baby belly is and our boys will work it out soon.

I don't know what to do...

Edited by Apples, 10 September 2012 - 10:18 PM.


#59 just roses

Posted 10 September 2012 - 10:48 PM

Apples, I'm so sorry you're going through this  sad.gif

The decision is yours to make with your DH. But my decision would be to not make a decision at all. Don't make a decision and you don't have to worry about making a decision you may later regret - especially if you already don't think you could make that.

I think it's courageous to continue to carry your baby, despite the unknowns. Your baby is currently in the safest place he or she can be; with you.

I really think that the decision to not make a decision is absolutely valid. There have been many women on these boards who have done just that. Some have lost their babies to miscarriage, others have been grateful for the time they got to hold their babies - even if they passed away, and others have gone on to have relatively healthy babies.

I absolutely do think (based on what you wrote) that you would regret terminating now, before you have ALL the information. So wait for the amnio. And give yourself breathing space.

All the best xx

#60 PeanutButterTurtle

Posted 11 September 2012 - 04:37 PM

Well, our results are in...and they're clear!

Apples - So it's a gene translocation kind of thing? I'm so sorry you have to go through this! I'm completely in agreeance with Roses, what you're doing is incredibly courageous and I completely understand the not knowing if you could terminate. I too would make a decision not to make a decision, but have the amnio as well so you have a completely clear picture.

#61 sarkazm76

Posted 11 September 2012 - 05:16 PM

Hello ladies - sorry you are all going through this.  I went through it myself with DS and hoping this time around to get the OK!  I asked my GP about skipping the 12 week and going straight for Amnio to save stress but she talked me out of it - says this is a new pregnancy so don't worry about what happenned before.  Yeah right - I'm 35 and have one child with chromsomal "abnormality".... of course I'm going to stress.

Anyway, I digress.  Apples - I wanted to let you know that my DS has mosaic gender chromosomes as well.  The phone call was "so you're all clear for the trisomies but inconclusive on the gender".  That was after everyone who saw any of my US said he was clearly a boy - flashing himself across the screen, lol.
So.... He has 50% XY and 50% X0 (missing the Y).  Of the Y that he does have they are abnormal.  So chromosomes have a P arm, a waist and a Q arm.  DS has 2 of one arm and none of the other.  So instead of P W Q he has P W P or Q W Q I can't remember which one.  Luckily the part he does have is responsible for normal male development.  There isn't a whole lot of stuff in the Y chromosome anyway but they do suspect hte part he is missing may mean he won't be able to have kids.  We have regular checkups with an endocrinologist who is monitoring his growth but really won't do anything until he hits puberty to mkae sure his hormones kick in OK.
When I was pregant they told me he might have trouble with his testicles descending and his urethra might be in the wrong place (hypospadias).  But he is just fine.  It was a whole load of stress.  I had a CVS - foudn it to be very painful.  We went onto have an amnio to make sure (as you mentioned).  There was no change in our results but our genetics Dr didn't think there would be.  3 days after my amnio I had an attack of gall stones and had to have surgery to have my gall bladder out.  So after all that.... well DS is a fighter for sure.

So I just wanted to let you know that I have been through something similar - it is quite hard to get your head around and work out what it all means and what you should do.  I think you would likely find out that you maybe already too far along at this point to have a termination as such and maybe already would have to deliver instead.  I don't want to upset you but I remember our Dr and counsellor at the time that it wouldn't make any difference by the time the CVS was done it would need delivery (I would have been 13 or 14 weeks then).  But you should check with your Dr's.

I don't know if I would have been able to go through with it either and I think it's very admirable when people let their bubs pass naturally inutero.  But you need to do what is right for you.  I would also find out from your Dr's if you did choose to wait then how long would they expect it to be?  What if you got to say 24 weeks and still a heartbeat?  What then?  You need all the information you can get.

All the best - I'm not sure I have offerred you anything useful at all I'm afraid but after being through something similar I can relate.  Have the amnio and at least they should do another nice long US - ask them to specifically check the areas they are already worried about.

bbighug.gif  to all

#62 MrsBobby

Posted 11 September 2012 - 10:51 PM

Apples: Big hugs to you! You sound like quite a strong person, it must be so tough for you at the moment! xx

Fi: I kind of second Roses opinion, I wouldn't do the NT scan again if I wasn't willing to go on with further testing. I am stressing out as it is now and I can get a test done in 2 weeks, wouldn't know how I felt with this result and not being able to take the test for 6 months due to being worried about the babies... And really, all it does is give you a statistic!! That being said, I suppose a good result might be a good way to calm your nerves too...It's such a stupid hard decision!

srakazm76: Thanks for sharing your story, it seems crazy what can go 'wrong' with our little bundles of joy.

And here I thought having a baby was kind of straight forward, at least that's what I always assumed it would be!!

#63 Apples

Posted 12 September 2012 - 07:46 AM

Thank you very much to Sarkazm76 for your response... and to everyone else. xxx

It just amazes me that if we didn't have the NT scan we wouldn't have known any of this...

The amnio has been booked in for next Thursday - so I guess they are trying to hurry things along.

I was back at work yesterday, put my happy face on... went for a short run at lunch time - I hadn't really been on a run since the CVS... and this is usually my stress relief. So it felt good to get out, even though I was a lot slower and did a lot more walking breaks than usual.

Midstudentcatie: congratulations! original.gif all the best for the rest of your pregnancy. xxx



#64 zackcat

Posted 13 September 2012 - 09:32 AM

Hi Apples - I agree with MrsBobby....you are an amazingly strong woman and you have been given some tough issues to deal with. I really hope the amnio goes well for you and you get some positive news.

I haven't been on this thread for a couple of weeks, after getting the CVS FISH results and thinking we had the all clear. We started telling lots more people about the pregnancy and to be honest I almost forgot that we were waiting for the rest of the CVS results....

Then I got a phone call from the Dr looking after us for the CVS on Monday and she said chromosome markers had been detected and they needed blood samples from both of us to do further investigations. We rushed out and had blood taken straight away and have now been waiting for the phone to ring ever since….she said we “should” hear something by Thursday {today}. The waiting is so hard. I just want to know if there is anything wrong with our little girl.  


#65 Apples

Posted 13 September 2012 - 11:31 AM

Sorry to hear that zackcat sad.gif  It all sounds very vague too doesn't it?
Hope you get some answers ASAP.

I was a bit silly and did some google searching yesterday... even though they told me this isn't something you can just look up.  Anyway... I heard some cases where issues were found around chromosome 2 in the CVS but not on the amnio... so now I have this little bit of hope back... though hubby is quick to point out that the baby still has the swelling around the neck...

#66 MrsBobby

Posted 13 September 2012 - 12:08 PM

Oh no zackcat, that's aweful! Keeping my fingers crossed it's all a false alarm and they tell you real soon... Not sure why doctors always have to scare you so much!!! We have been really holding back with telling people about the pregnancy due to waiting on the Amnio and I would hate for this to happen! sad.gif( ***hugs***

Apples, it's so hard not to get your hopes up when you read something like that! I would totally do the same and just hope the baby might just be a little bodybuilder with a thicker neck... Fingers and toes and everything crossed for you a good outcome! I am so glad my DH is constantly telling me everything will be fine... I am definitely the worry bug in our marriage! Only sucks he is away for a month at the moment and won't be there to hold my hand during the Amnio... sad.gif

#67 sarkazm76

Posted 13 September 2012 - 12:24 PM

Apples.... in the research I did at the time I found that any part of any chromsome can be transferred to another and it happens more often than you might think.... but normally it would be mirrored.  So if you had part of Chromsome (let's use CH) 2 on your CH X then there should also be part of CH X on your CH 2 if that makes sense.  So you still have a full set but they are located "funny".  It's when you have missing or extra parts that you get into trouble.
This is the site I used:
http://mosaicism.cfri.ca/ ..... but it doesn't seem to be working for me if I try and navigate to the other pages... but could be cause I'm at work and our network sucks original.gif  let me know if it doesn't work.
I did find most of my research showed that babies are actually quite good at putting "junk" CH in their placenta.
** edit - think I fixed the link now **

Zackcat - that is very unusual.  I spent a lot of time in the support group and check in from time to time and I have never heard of anyone having to go have blood tests themselves - especially with no communicatioin on what they are looking for!!!  Hoep you get some answers soon.

Edited by sarkazm76, 13 September 2012 - 12:31 PM.


#68 zackcat

Posted 14 September 2012 - 08:56 AM

Hi sarkazm76 - They want to look at our blood to see if one of us has the same chromosome marker. Sometimes one of the  parents can have the anomaly and it isn't a problem.

We spoke to them yesterday and they said they won't have anything for us until at least Tuesday next week. It's going to be a long weekend  unsure.gif

#69 MrsBobby

Posted 14 September 2012 - 12:04 PM

Oh it sure will be a long weekend! Make sure you keep yourselves busy... I can only hope that one of you has the same markers as you guys are probably fine and that way you wont have to worry too much?!?! Might really just be something that's in your genes and is nothing to worry about!! Have they given you some more info?

Apples how are you going?

#70 Apples

Posted 14 September 2012 - 03:21 PM

Thanks Sarkazm76, yeah that is one of the websites that I found... and it seems none of the links within the site work...

zackcat - argh how frustrating!  I know how slow this week seems to have gone... I can't believe it was only Monday that we were at the hospital last!  Seems more like 2 weeks ago!
We had to have the blood tests too for the same reason.  We joked that my hubby is now registered as a patient at the womens hospital! (you gotta laugh at something right?)

You know all this RUOK? Day thing yesterday... well I kept thinking 'I'm OK... just ok'.  OK doesn't really sound good enough though.
But then today was a bad day... and I can't even tell you why today felt different to yesterday...
I had a sore neck, I felt sick (but was probably just hungry) and got an email at work which was talking about reviewing a document because the original author is no longer with us (he died very suddenly a few weeks ago - though I didn't really know him).  
I guess all these things just added up and hormones and all that just made me feel very emotional...
I'm ok now... went for a run at lunch time with my 'work husband'... a good friend at work who knows all about the baby... and he even laughed at my belly poking out!  Felt good to get some fresh air.  I just got invited to an after work drinks thing for a friends going away, so I'm wondering if I can ask the bartender to make me a pretend alcoholic drink! lol

Hurry up next Thursday!!!!!!!!

#71 MrsBobby

Posted 15 September 2012 - 01:15 PM

Time seems to really drag on at the moment... Still like 1 1/2 weeks until the amnio and it seems like forever!!

I want to have a pretend alcoholic drink! Yesterday at work was crazy and nothing seemed to work out plus I kept forgetting things (stupid baby brain) and then everyone sat together afterwards with a beer in hand so I really felt like some sort of alcoholic drink but no one let me lol. (Not that I really would...) Sometimes it's just too much to handle all at once, work stress, baby stress and then all those crazy hormones...

I am glad it's the weekend now so I hope you all get some rest and go out and do some lovely things in the sunshine!! I'll be taking my dog to the beach I think, just the right thing to get my mind off things!!!

Just a side mention: The internet is so stupid, how can they have a website and then none of the links work! Don't they realise there are people out here that really want to read that info?!

#72 Cyaira

Posted 16 September 2012 - 06:10 PM

Thought I would update...

I saw my OB. His gut feeling is also that the baby is ok which is a little reassuring but you never know. He said low papp-a can definitely be caused by other things
(as in, not chromosomal problems).

Our plan is to do an early morphology scan at 16 weeks (I'm 13+4 now) to check baby's heart etc and markers for down syndrome at a very skilled (read: expensive, lol) ultrasonography place that he trusts (with 3d scanning etc). If it comes back with bad results we will reconsider an amnio. At least we'll probably find out the sex then. I'm so nervous, I really hope our baby is ok.

We have decided not to do a CVS or amnio at this point as the risk of miscarriage from the procedures is higher than our risk of T21.

We will still have our 19/20 week scan as usual and also another scan at 24 weeks.


*big hugs* for everyone waiting for results and procedures bbighug.gif

#73 Apples

Posted 17 September 2012 - 09:51 AM

Morning all original.gif

Cyaira: that is good news, and good that you have a plan now.  Sounds very sensible too.  

My pretend alcoholic drink on Friday night was peach iced tea with lemonade, and the bar tender was great - yelling out loudly, double vodka coming up! Lol

Had a great weekend - we went to a games night with friends - and because they all knew about my situation I didn't have to worry about bumps showing, and not drinking and all that - I could just relax and enjoy myself.  We got a Wii dancing game going and I danced away for a few hours before we realised that it was 3am!!! OMG! ended up leaving about 4am!  I haven't been up that late since when I was in labour with my 6 year old!  My boys were sleeping in the spare room at my friends place, so we just bundled them into the car, put them to bed when we got home and managed to get about 5 hours sleep before the boys came in and woke us.  And because I hadn't been drinking I actually felt ok! it was weird! I felt like I should have a hangover or something! lol

I have a hens night to go to this weekend... my SIL is down from qld for it, so I will have to try and find time before Saturday to catch up with her and let her know.  I guess I come in handy as the designated driver!  

I hope you all have been able to relax and do something for yourselves while waiting for results and things.  It sure does help original.gif

#74 Mum_of_five

Posted 18 September 2012 - 12:11 AM

I am 27 weeks today and had the test done in the first trimester to check for chromosonal abnormalities... Icame up 'high risk' for the blood results but not the ultrasound... DH and i decided not to go ahead with the amnio,because having had a misscarriage in my first pregnancy, i could never live with myself if i had amisscarriage after an amnio and would always blame myself... This is number 5 for us and a complete suprise, i am 42 so knew that i was immediatly classed as 'high risk' based on age, and i felt guilty as well for getting pregnant at 42...
At my first hospital app, the woman i saw looked at me and said 'you are high risk and have 4 healthy children and should consider termination'... No words can describe how i felt after that visit...

DH and i had decided that we would have the baby regardless, and would wait for the T2 scan at 20 weeks... I was so scared, but the US showed no signs of any abnormalities... The scan took an hour, was checked by 2 sonographers and all measurements were 'normal'.. The doctors also checked the scans and i was given the all clear to go with no soft markers for abnormalities... I still have all visits to the hospital, but i never saw the one from the first visit again thankfully... I have found out since, that here is a high 'false positive' blood test rate because there are factors that can change the results... I dont regret having the test done, because i would rather know my risk at 3 months, than find out at 20 weeks that my baby had abnormalities...

#75 MrsBobby

Posted 18 September 2012 - 10:05 AM

Morning everyone...

Cyaira, I think you are being really brave and sensible with your decision. I like your doctor, he sounds very reassuring! Mine was very reassuring as well and calmed me down a lot.

Apples, will you have to wait for two weeks for your final results or do you think they can already read stuff out of the FISH results? I really hope it will all sort itself out in a good way for you!! I really liked your double shots of vodka lol! It sounds like you have really good friends and work colleagues around you!

mum2bof5, what a terrible person to work in a hospital! Sometimes you really wonder why people people take on the jobs they have... I can't imagine what I would feel like if someone said that to me! Don't feel guilty for falling pregnant later than what is classified as they norm! I am sure your baby will be prefectly healthy and it will come into a family with 4 siblings that will all love it lots!

We still have a week to go until the amnio and I am torn between wanting to look at baby stuff or by maternity clothing and not wanting to do anything at all... I went ahead and booked a pregnancy yoga class which will only start after the week after amnio and I really hope I don't have to cancel it!! It's kind of hard to plan to have a baby but not really wanting to plan too far ahead because you still haven't got the all clear. sad.gif




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