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Support Group for Hi Risk NT Results #42


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#26 MrsBobby

Posted 06 December 2012 - 08:36 AM

Hi Adamira, did your results come back as high risk? 2.2mm is nothing to be worried about. I think as long as it's under 3mm it's fine and if your bloods were fine I wouldn't know why you would even be considered high risk?!

Dee, sorry I must have missed the notification of your reply! I hope your appointment went well and gave you some answers? Perth is a little bit behind on a lot of things isn't it? I would know, I live here too...

#27 riwybo

Posted 08 December 2012 - 11:25 AM

I didn't even know a group like this was here. Thank goodness for trolling, although I wish I didn't need this group, as I'm sure is the same for everyone.

Had my NT scan on Wednesday & scan results were good, but bloods came back 1:209. I had a visit with my gp today & he is all for whatever my decision is. He didnt pressure me into tests or anything, but set up an appt with the hospital for information.

I'm not sure if I want the tests at all. I don't want bad news, but if I want peace of mind & how to take the next step I guess I just need to suck it up. I'll decide after my hospital appointment I think.

I'd also just like to say to Cyaira - I am so sorry your NT results were high risk sad.gif but I am so glad all is well & congrats on expecting a baby boy. It feels like forever since the TTC group.

Oh and rainluv I am so extremely sorry to read about your news. Like others have said take it easy on yourself & rest up hhugs.gif

Edited by riwymk, 09 December 2012 - 07:39 AM.


#28 jdmum1

Posted 09 December 2012 - 02:38 PM

Just thought I would do a quick post while I had two sparè seconds things have been busy here since the arrival of

Our beautiful perfect baby girl!!!!! So after our high risk results of 1:115 for DS and we didn't do any further testing we were very relïeved one she was born to have our worries put at ease. We named her Imogen Faith - faith the middle name coming from the fact that we just tried to keep that thrôughôut the pregnancy and hope everything would be ok.

So hang in there everyone x

#29 Cyaira

Posted 10 December 2012 - 12:00 PM

Dee4+5: I am sorry to hear about your sweet baby's diagnosis. I would definitely investigate fetal surgery (surgery in-utero?), I have also heard that it can have better outcomes. Ask the OB maybe, it might be worth travelling for?

rainluv: Words cannot express. *big hugs* sad.gif sad.gif

Jdmum1: Congratulations on your beautiful baby girl!!
I will be in the same position as you were in, in March (we decided to undergo no further testing) so it is really reassuring to hear good news stories from others and thank you for updating us.

riwmyk: Oh congratulations on your pregnancy! biggrin.gif I am so glad for you... but I am also so sorry you have joined me here. sad.gif When is your appointment at the hospital? I hope you find it helpful. We decided not to do further testing as our risk is quite low in the scheme of things (just under 1/300, the cutoff) and because we would welcome a child with T21 just like any other. But I am told this is quite a rare course of action and my OB was a little surprised (but supportive, thankfully).

As for me: I have my 26 week scan on Wednesday. Looking forward to seeing our little bub and hoping all is still well (although I'm strangely not too worried about that). He seems to be growing well so far though, over a week ahead in size and I feel him kicking constantly. I also have my glucose tolerance test on Wednesday too.

I have noticed my BP has gone from 110/70 to 128/80 so I got a blood pressure monitor to help with my anxiety about pre-eclampsia which I am more likely to get with the low papp-a levels.

#30 riwybo

Posted 10 December 2012 - 05:34 PM

QUOTE
riwmyk: Oh congratulations on your pregnancy!  I am so glad for you... but I am also so sorry you have joined me here.  When is your appointment at the hospital? I hope you find it helpful. We decided not to do further testing as our risk is quite low in the scheme of things (just under 1/300, the cutoff) and because we would welcome a child with T21 just like any other. But I am told this

Thank-you. I am so excited & can't wait to meet bub. I am glad all is going well with you. DH & I.too have decided we won't have further testing as thesame goes, the risk isn't really that high. A good friend of mine had 1:70 and her bub is 2 months old & fine :-) so it gives me hope.

The hospital called for an appointment, but I said not to worry about it. Next checkup is after my 20 weeks scan mid January.

#31 Magenta_

Posted 17 December 2012 - 11:24 AM

Hi there,

I have my NT scan booked for this Thursday but have been doing some reading up so I can make an informed decision re further testing etc if we need to (touch wood we won't need to!).

A lady in one of the other forums posted a link to this interview regarding the risks of testing which I thought was really valuable and I thought I'd share it here in the hope it might be useful for other people.

http://www.abc.net.au/radionational/progra...8314#transcript


In a nutshell the risk of further testing is more like 1:1000 - 1:1600 rather than the 1:100 - 1:200 that is commonly quoted.

It's made me feel a lot better for sure and seems to be from a highly reputable source.

Wishing everyone the best of luck!
Magenta xx

#32 angusarrivedsafely

Posted 03 January 2013 - 10:46 PM

hi someone mentioned this thread and I thought I would share my story, I am 37yrs and new mum to my precious boy (my 2nd ivf pregnancy, have a 4 yo daughter as well), after conceiving with a frozen embryo, I had a scan at 6 weeks, which showed a 4 week sac, no fhr (obviously my dates were definite and no one could account for the 2 week lag in growth), my bhcg levels remained lowish and even dropped at one stage (just a little) but my tough lil one continued to grow and the following week a fhr was obtained although we were told more then likely we would mc due to hormone levels and growth delay. at 12/40 had my nt scan which was high risk due to age/biochemistry PAPP-A was 0.130 (this is not a misprint) and free bhcg 1.570, nuchal fold was normal, my nt was high risk, t21 1:15, t18 1:19, t13 1:152, had a cvs which on final culture was found to be trisomy 2 moscasism in 45% of the cells, growth was normal for the corrected gest age, (ie edc was recalculated on the 4 week sac scan), I than had an amino at 15/40 (very uncomfortable as was the cvs) but failed to obtain a spec so redone at 18/40, it was FISH for t2 so as to get a quick result again showed up, on final culture 10% (only in one of the three cultures) but as they has seen it throughout all tests where thinking it was true moscaism of the aminotic fluid. the unique website had some info on case studies all with developmental problems etc. Morph scan was norm so after much soul searching we decided to continue with our pregnancy. Im
developed pre eclampsia and was medicated from 28/40, almost had angus at 34 weeks due to low platlets and received steroids to prepare but thankgod didn't I did end up having him at 35+5/40, he was 1.8kg and was in scn for almost 2 weeks (phototherapy x 2, and till he fattened up), we left hosp he was just over 2kg and bf brilliantly (hungry boy), apart from being small, femur lengths were short from about 24/40 utero and I had fortnightly scans throughout the pregnancy, spent many days in daystay for monitoring of my bp/bub. Fast forward now 6mths later he is a happy boy who now is approx. 7.8kg, still a little short, (50%percentile on growth chart for hc and weight and 10% for height but this is on a not corrected age). also at birth cord blood was neg and the placenta was86-96% t2 cells, according to the genetists angus will never be cleared of having t2 moscaism as it could be in one part of his body that we are unaware of but for the time being he appears to be reaching his milestones at the corrected age. sorry for the long winded story but maybe someone may be in a similiar situation, hope this helps

#33 zackcat

Posted 06 January 2013 - 04:14 PM

Hi angusarrivedsafely

Wow we have had very similar experiences so it was fantastic to read all about your beautiful and healthy little boy.

In a nutshell…..I had a CVS at 12 weeks and chromosome markers showed up. Blood tests on us showed neither of us had the extra marker. A microarray test identified Chromosome 2 ring marker in 50% of placenta cells analysed. At the same time we had an amnio and 3 weeks later we were told that 4% of amniotic cells analysed had the same chromosome 2, so both results were mosaic. The genes affected are q11.1 – p22.1.

We had multiple anatomy and morph scans plus a fetal cardiologist checked out bubs heart and her face was scrutinised. After several weeks of tests and meetings with the geneticists we decided around 22 weeks to take a leap of faith and proceed with the pregnancy. I’m being looked after by the Maternal Fetal Medicine Dept up at the RHW and have had frequent growth scans where everything continues to look good and bub is growing like a champion.

I’m 32 weeks now and so far so good….apart from still throwing up every day! Poor you having so many other health related issues to contend with while carrying him. They will also do the cord testing when she is born, but as you said it could be in any organ and not necessarily the blood so it won’t rule it out conclusively if the cord blood is clear.  

Please keep me posted on how Angus is doing as I’d love to keep in touch  smile1.gif .

Edited by zackcat, 06 January 2013 - 04:15 PM.


#34 colpheepip

Posted 08 January 2013 - 10:58 AM

So happy you could find each other zackcat and angusarrivedsafely xxx
My daughter is 13 months old and we had a similar amnio result for trisomy 18 mosaic. She is doing extremely well even though she is only 6.8 kg but there is no reason that she won't be a typical child.  
Sending love to everyone xxx

#35 Cyaira

Posted 13 January 2013 - 04:29 PM

Hi all,

Less than (approx) 10 weeks to go till B-day and we meet our littl man. ohmy.gif Where has this time gone?

We have another scan in a few weeks to check for IUGR because of my hormone levels but so far baby seems to be doing the opposite, growing like a champ.

Anyway, I was wondering if anybody knew some good T21 resources or support groups who might be able to help me if baby turns out to have T21? I know it's just a possibility but if he does I think it would help with the being thrown in the deep end.

I heard there are some unique challenges like with breastfeeding? And I'm not sure how to manage negative reactions. I have already heard so many awful comments so far from people about children with down syndrome.

#36 MoonPie

Posted 13 January 2013 - 07:14 PM

Hi all, a little scared to be jumping in here, but here I am anyway. Glad to have found this little group.

1:62 risk of Downs for us, based mostly on a 3.6mm nuchal fold. Currently waiting for King Edward (the tertiary hospital in Perth) to contact us regarding further testing. I'm terrified but trying very hard to be perky and positive about it for DP who is not coping very well.

Look forward to being involved here original.gif

#37 riwybo

Posted 17 January 2013 - 01:23 PM

QUOTE (Cyaira @ 13/01/2013, 04:29 PM) <{POST_SNAPBACK}>
Hi all,

Less than (approx) 10 weeks to go till B-day and we meet our littl man. ohmy.gif Where has this time gone?

We have another scan in a few weeks to check for IUGR because of my hormone levels but so far baby seems to be doing the opposite, growing like a champ.

Anyway, I was wondering if anybody knew some good T21 resources or support groups who might be able to help me if baby turns out to have T21? I know it's just a possibility but if he does I think it would help with the being thrown in the deep end.

I heard there are some unique challenges like with breastfeeding? And I'm not sure how to manage negative reactions. I have already heard so many awful comments so far from people about children with down syndrome.

Wow only 10 weeks left. Very exciting. How did your scan go? Did anything show up in regards to T21?
I can't help with any sites, maybe do a Google search.

I have my 20 week scan next Wednesday & I'm very nervous. I think I'm starting to kick myself for not getting amnio. I was too scared to face the possibility of our baby having downs syndrome. How much can they tell from a scan? The place I'm going to includes 3/4D so I hope that helps determine facial features along with NT and nasal bone.



#38 YellowTulip

Posted 17 January 2013 - 06:30 PM

Hi all,
Firstly I'd just like to say thank you for your posts as they have been very helpful and comforting so far.
I am 13w1d and had my NT scan yesterday. The fold test and scan was normal (2mm) but my bloods have come back poor (PAPP 0.24 MoM), placing me in the high risk category with 1:39 of DS.
My younger sister has DS, and due to this, needless to say, I am freaking out! I have booked the amnio for 2 weeks time, but think I will go crazy in the meantime. I don't know how I would react to the news that my pregnancy is not as expected, especially as it took me quite some time to get pregnant in the first place.
Hoping and praying for good news for everyone else too!



#39 bees-knees

Posted 17 January 2013 - 07:28 PM

QUOTE (Cyaira @ 13/01/2013, 07:29 PM) <{POST_SNAPBACK}>
Anyway, I was wondering if anybody knew some good T21 resources or support groups who might be able to help me if baby turns out to have T21? I know it's just a possibility but if he does I think it would help with the being thrown in the deep end.

I heard there are some unique challenges like with breastfeeding? And I'm not sure how to manage negative reactions. I have already heard so many awful comments so far from people about children with down syndrome.


Hi Cyaira,

There is MOBS of support out there!  One of the things which I have found most surprising since my daughter was born with Ds three and a half years ago is how much support there is out there. Each state has it's own Down syndrome society or association, and each one offers a different type of service.  So if you Google "Down syndrome (your state)", you should find contact details.

There are some beautiful blogs written by Mums of kids with Ds, and I'm happy to PM you some links if you like (I think I'm not allowed to post them here?)

There are some fantastic groups on Facebook, but the ones I am on, you need to be invited to, but if your bub does turn out to have Ds, please PM me, and I'll invite you to these.

The best resource I've found though, is other parents of kids with Ds (and preferably young-ish kids - a lot has changed, even in the last 10-15 years).  Your Down syndrome society/association should be able to link you with parents if you want to talk to someone now, or later.

And of course, please feel free to PM me, if I can answer any questions for you.  Best of luck with your pregnancy.


#40 prettypeachy

Posted 01 February 2013 - 08:22 PM

Hi there

I was wondering if any breastfeeding mums have had an amniocentesis without complications? My daughter is 13 mths old, and feeds twice a day (morning & night), but I was wondering if I should wean her before the amnio. I would seriously consider weaning her if the miscarriage risk was greater. Thanks.

#41 melanieb530

Posted 03 February 2013 - 03:21 AM

Colpheepip what positive news, great to hear that your daughter with Trisomy 18 is doing really well.
Our youngest has Trisomy 21 and she is just the most delightfully perfect addition to our family.
As mentioned previously there is heaps of support out there for families wanting to know more about Down Syndrome - just contact the organisation in your State.

#42 Concerned Nana

Posted 04 February 2013 - 11:30 PM

Daughter 38 (39 when bub due) pregant with first baby.

NT test at 13 weeks Gestational age Heart 162 bpm CRL 64.7 NT 2.41mm Nasal bone present. Anatomy all listed as 'appears normal' or 'visible'.

Blood test : hCG .3049 MoM PAPP-A .3726 MoM so both lower than 0.4

Estimated risks :TS21 Background 1:109 Adjusted 1:451 Diagnoses Low risk result

                     T13/18 Background 1:203 Adjusted 1: 87 Diagnoses High risk result

Amniocentisis 17 weeks Gestational age - Ultrasound comments at time all very positive. FISH results after 24 hours : Good for 13/18 but not conclusive for 21 as 10% have 3 copies instead of 2 so have to wait 7-10 days for the full results.

The FISH results seem opposite to the NT assessment and the 10% seems to bring up the term mosaic which I have now read about.  (I think I understand that that means 10% of the 20 cells tested at this stage). Have read all the postings over the last couple of years and really sympathise and feel for all the worry etc., that everyone has gone or are going through. Am trying to understand these figures and what they mean or might mean so that can support daughter and her husband and wonder if anyone has had something similar happen.

#43 Concerned Nana

Posted 21 February 2013 - 05:17 PM

Hallo - Little worried that my posting seems to have created silence, but hope that is because no one has need of this forum.  But also hope, that as a Grandmother, I didn't cause any concern about posting to a forum where mums to be are expressing their concerns.

Anyway since my posting, my daughter and her husband have had that stressful time, (while the weeks pass and bub makes his presence felt), of waiting for the full Amniocentesis results to come in. The worry over the initial inconclusive results from FISH has now turned to joy as bub is fine.

Hoping this might help someone in the future who is searching anywhere and everywhere , like we did, for similar experiences.



QUOTE (Concerned Nana @ 05/02/2013, 12:30 AM) <{POST_SNAPBACK}>
Daughter 38 (39 when bub due) pregant with first baby.

NT test at 13 weeks Gestational age Heart 162 bpm CRL 64.7 NT 2.41mm Nasal bone present. Anatomy all listed as 'appears normal' or 'visible'.

Blood test : hCG .3049 MoM PAPP-A .3726 MoM so both lower than 0.4

Estimated risks :TS21 Background 1:109 Adjusted 1:451 Diagnoses Low risk result

                     T13/18 Background 1:203 Adjusted 1: 87 Diagnoses High risk result

Amniocentisis 17 weeks Gestational age - Ultrasound comments at time all very positive. FISH results after 24 hours : Good for 13/18 but not conclusive for 21 as 10% have 3 copies instead of 2 so have to wait 7-10 days for the full results.

The FISH results seem opposite to the NT assessment and the 10% seems to bring up the term mosaic which I have now read about.  (I think I understand that that means 10% of the 20 cells tested at this stage). Have read all the postings over the last couple of years and really sympathise and feel for all the worry etc., that everyone has gone or are going through. Am trying to understand these figures and what they mean or might mean so that can support daughter and her husband and wonder if anyone has had something similar happen.


#44 nonny1

Posted 22 February 2013 - 06:26 AM

Hi Concerned Nana,

Congratulations on the good news biggrin.gif I've been checking this thread to see if anyone replied to you and was also suprised it was so quiet. You must be relieved the waiting and wondering is over? And the best part is that you got good news at the end of it. Hoping the rest of her pregnancy is a joy.

#45 Cyaira

Posted 22 February 2013 - 11:55 AM

Hi Concerned Nana,

I'm sorry nobody replied! I'm so glad your daughter (and bub) received good results and it's great to have those results in here to help reassure other mothers to be who have concerning results.

Anyway thought I would update: 36 weeks here and feeling it! I feel some trepidation about what bub will be like, whether he has t21 or not, but he will be loved regardless so I'm mostly looking forward to meeting our little guy.

Our last ultrasound showed no markers but he does have a massive head (5 weeks ahead) which isn't concerning for his sake but a little for mine when it comes to pushing him out! Hopefully he doesn't stay inweside too much longer.

Thanks for the links bees-knees and others, I did check them out and they're quite helpful original.gif

#46 mirabella

Posted 22 February 2013 - 01:24 PM

Hi,

Im new hear. My husband and i have just gotten back from the OBGYN and have been told the test results from out NT scan. They came back as low risk but the Dr is worried because the measurement was rather big. He said my bloods and age are fine but i measured at 3.44. I feel completely numb and shut off from being "pregnant". We will be booking in for an amnio but have to wait 2 weeks until i am 15 weeks and then more wating and then what............


any advice would be great


Thanks in advance.

#47 HGL

Posted 24 February 2013 - 04:37 PM

I posted this in the regular Pregnancy section but I hope you don't mind me posting it here.

I had my anatomy scan this week. All the measurements and details were all fine and correct for dates. However the scan did identify an abnormal lateral brain venticular measurement. My baby's measurement was 11.2mm; average is 7.6mm and measurements above 10mm are considered abnormal. At this stage, the head diameter and circumference are spot on for dates.

The incidence for fetal ventriculomegaly is quite low, only 1-2 babies per 1000. Ventriculomegaly can be isolated or related to a number of other conditions. At it's worse, it is a symptom/marker for hydrocephalus (fluid on the brain), a condition where the flow of fluid through the brain is obstructed or blocked. Without a working shunt installed, excess fluid can build up and result in an abnormally large head, mental and physical disabilities.

The main conditions that result in ventriculomegaly are:
* chromosomal conditions such as Downs Syndrome - my 12wk NT scan came back with a probability of 1:9000 for DS and the latest scan didn't identify any other markers for DS or other trisomy conditions; i didn't have an amnio done.
* spina bifida - no other indicators that the baby has spina bifida
* viral infection such as toxoplasmosis or rubella - I haven't been sick during the pg or been exposed as far as I know (we don't own a cat and I have immunity to rubella)

At this stage it would appear my baby's condition is an isolated case. My doctors (both OB & ultrasound dr) have advised a follow up US in 2 weeks and see if anything has changed. If the condition has worsened or stayed the same, I can then decide on other tests such as amnio, fetal MRI and genetic counselling. My doctor did give me the option to start additional tests now but I don't think they'll really be able to tell me much more, it's really going to be a matter of how it progresses. There's a possibility that the condition may resolve itself in utero.

Right now I'm just trying to get through the next 2 weeks. I think if even if they diagnose hydrocephalus during the pregnancy, the doctors won't be able to give us a prognosis on the baby's life until after it's born. The idea of having a baby who may be perfectly fine or alternatively have severe disabilities is very scary and makes it a very difficult decision if they give us the option to end the pregnancy.

My apologies for the long post. My DH and I have decided not to tell any other family or friends as we don't want them to worry unnecessarily. I would appreciate if any other EB members could share if had received abnormal results.

#48 FarmBaby

Posted 26 February 2013 - 05:40 PM

Can anyone enlighten me on how the Down's Syndrome etc test (ultrasound and bloods) is worked out? With my last pregnancy (I was 32) I was given a risk of 1:2000. This time around I (34/35) I have been given a risk of 1:275. NT was 1.4, PAPP A is 0.4, hcg is 1.1. My doctor is telling me not to freak out (too late) that it is my age and the borderline PAPP A throwing the values out and the PAPP A is not necessarily indicative of a trisomy problem. She keeps pointing out that for my age the risk is 1:385 so I don't fall far out of the range.

How come then, was my risk at 32 not 1:769? I am having a follow up blood test when I'm 14 weeks to see if the results are any different otherwise I think I'll try the igenescreen test.

#49 HGL

Posted 26 February 2013 - 06:06 PM

QUOTE (FarmBaby @ 26/02/2013, 03:40 PM) <{POST_SNAPBACK}>
Can anyone enlighten me on how the Down's Syndrome etc test (ultrasound and bloods) is worked out? With my last pregnancy (I was 32) I was given a risk of 1:2000. This time around I (34/35) I have been given a risk of 1:275. NT was 1.4, PAPP A is 0.4, hcg is 1.1. My doctor is telling me not to freak out (too late) that it is my age and the borderline PAPP A throwing the values out and the PAPP A is not necessarily indicative of a trisomy problem. She keeps pointing out that for my age the risk is 1:385 so I don't fall far out of the range.

How come then, was my risk at 32 not 1:769? I am having a follow up blood test when I'm 14 weeks to see if the results are any different otherwise I think I'll try the igenescreen test.


Does this help explain it?
http://www.parkultrasound.com.au/download/...Information.pdf

It's based on a statistical computer modelling program. Your age, bloods and NT measurements are all fed into the program and it determines the probability. I would assume that when you were 32, not only were you younger but your bloods and NT were 'better' then your latest pregnancy.

#50 HurryUpAlready

Posted 26 February 2013 - 10:22 PM

QUOTE (FarmBaby @ 26/02/2013, 03:40 PM) <{POST_SNAPBACK}>
Can anyone enlighten me on how the Down's Syndrome etc test (ultrasound and bloods) is worked out? With my last pregnancy (I was 32) I was given a risk of 1:2000. This time around I (34/35) I have been given a risk of 1:275. NT was 1.4, PAPP A is 0.4, hcg is 1.1. My doctor is telling me not to freak out (too late) that it is my age and the borderline PAPP A throwing the values out and the PAPP A is not necessarily indicative of a trisomy problem. She keeps pointing out that for my age the risk is 1:385 so I don't fall far out of the range.

How come then, was my risk at 32 not 1:769? I am having a follow up blood test when I'm 14 weeks to see if the results are any different otherwise I think I'll try the igenescreen test.


Hi FarmBaby. I had my NT scan yesterday and, in the event that my tests came back as high risk (I'm 38, so was anxious about it), I enquired about having the iGeneScreen test done. I was advised that this is only relevant for DS, not for any of the other genetic disorders. I didn't realise that until yesterday so just thought I'd mention it in case this hadn't been explained to you. If DS is the only thing you are concerned about then this would be a good test to have, but it won't cover everything.

As for how it is all calculated, I don't know, sorry.

Good luck to you, I hope everything is ok with your little one.









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