u/charlotte095

Hi everyone,
I'm trying to understand our next steps with our baby's long bones and if we should move forward with whole exome sequencing. 

At 20 weeks:
-BPD: 31%
-HC: 13%
AC: 37%
Femur: 4%
Humerus: 7%
-FL/AC: 19.4%
-EFW:12%

At 24 weeks:
-BPD: 34%
-HC: 17%
-AC: 60%
-Femur: <3%
-Humerus: 10%
-Radius, ulna, tibia, and fibula all ~<3%
-FL/AC: 19.2%
-EFW: 23%

normal mineralization
no fractures
no bowing
no bell-shaped thorax
no major skeletal abnormalities elsewhere

Testing so far:
-low risk NIPT at 10w3d
-Normal NT scan at 13w
-Low risk Vistara
-Normal microarray
-Waiting for karyotype testing

I am strongly considering going forward with WES. Has anyone been in a similar situation? Did you do WES testing? What did it find, if anything?

Hi everyone,
I'm trying to understand our next steps with our baby's long bones and if we should move forward with whole exome sequencing. 

At 20 weeks:
-BPD: 31%
-HC: 13%
AC: 37%
Femur: 4%
Humerus: 7%
-FL/AC: 19.4%
-EFW:12%

At 24 weeks:
-BPD: 34%
-HC: 17%
-AC: 60%
-Femur: <3%
-Humerus: 10%
-Radius, ulna, tibia, and fibula all ~<3%
-FL/AC: 19.2%
-EFW: 23%

normal mineralization
no fractures
no bowing
no bell-shaped thorax
no major skeletal abnormalities elsewhere

Testing so far:
-Normal NT scan at 13w
-Low risk Vistara
-Normal microarray
-Waiting for karyotype testing

I am strongly considering going forward with WES. Has anyone been in a similar situation? Did you do WES testing? What did it find, if anything?

Looking for anyone who has been through something similar. I’m 24 weeks pregnant and trying not to Google myself into oblivion.

At our 20-week anatomy scan, baby was growing overall normally (EFW 12th percentile), but the femurs and humeri were short:

• Femur: 28.1 mm, 4th percentile (~18w4d)
• Humerus: 28.1 mm, 7th percentile (~19w)
• FL/AC: 19.4%
• Bilateral pyelectasis (7.1 mm left, 5.7 mm right)
• Otherwise anatomy was normal.

We repeated the scan at 24 weeks, and the long bones are still short, but they did grow appropriately over the 4 weeks and are following their own curve:

• EFW: 23rd percentile
• AC: 60th percentile
• Femurs: <3rd percentile, measuring ~22w2–22w3d
• Humeri: ~9–10th percentile, measuring ~23w3d
• Ulnae/radii also <3rd percentile
• Tibiae ~4th percentile, fibulae ~9th
• Feet are normal size (~36–47th percentile)
• FL/AC: 19.2%
• Pyelectasis is stable at ~7 mm

The reassuring part is that everything else looks good: normal bone mineralization, no bowing or fractures, normal skull/profile, normal hands/feet, no bell-shaped thorax, no hydrops, normal fluid, and appropriate overall growth.

MFM specifically said they have low suspicion for a lethal skeletal dysplasia, but skeletal dysplasia is still on the differential because the long bones remain so short.

Our testing so far:

• Low-risk QNatal NIPT (T21/18/13, sex chromosomes, microdeletions)
• Normal NT
• Normal AFP
• Negative Vistara, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• We are now considering amniocentesis with CMA + exome sequencing

Our OB/genetic counselor seem to think the two biggest possibilities are constitutional short long bones vs. a mild skeletal dysplasia.

My husband and I are both 5'8".

Has anyone had persistent femurs/long bones <3rd percentile that continued to grow along their own curve, with otherwise reassuring anatomy?

Did your baby eventually catch up? Was it constitutional? Did you have amnio and did it find anything?

Looking for anyone who has been through something similar. I’m 24 weeks pregnant and trying not to Google myself into oblivion.

At our 20-week anatomy scan, baby was growing overall normally (EFW 12th percentile), but the femurs and humeri were short:

• Femur: 28.1 mm, 4th percentile (~18w4d)
• Humerus: 28.1 mm, 7th percentile (~19w)
• FL/AC: 19.4%
• Bilateral pyelectasis (7.1 mm left, 5.7 mm right)
• Otherwise anatomy was normal.

We repeated the scan at 24 weeks, and the long bones are still short, but they did grow appropriately over the 4 weeks and are following their own curve:

• EFW: 23rd percentile
• AC: 60th percentile
• Femurs: <3rd percentile, measuring ~22w2–22w3d
• Humeri: ~9–10th percentile, measuring ~23w3d
• Ulnae/radii also <3rd percentile
• Tibiae ~4th percentile, fibulae ~9th
• Feet are normal size (~36–47th percentile)
• FL/AC: 19.2%
• Pyelectasis is stable at ~7 mm

The reassuring part is that everything else looks good: normal bone mineralization, no bowing or fractures, normal skull/profile, normal hands/feet, no bell-shaped thorax, no hydrops, normal fluid, and appropriate overall growth.

MFM specifically said they have low suspicion for a lethal skeletal dysplasia, but skeletal dysplasia is still on the differential because the long bones remain so short.

Our testing so far:

• Low-risk QNatal NIPT (T21/18/13, sex chromosomes, microdeletions)
• Normal NT
• Normal AFP
• Negative Vistara, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• We are now considering amniocentesis with CMA + exome sequencing

Our OB/genetic counselor seem to think the two biggest possibilities are constitutional short long bones vs. a mild skeletal dysplasia.

My husband and I are both 5'8".

Has anyone had persistent femurs/long bones <3rd percentile that continued to grow along their own curve, with otherwise reassuring anatomy?

Did your baby eventually catch up? Was it constitutional? Did you have amnio and did it find anything?

Looking for anyone who has been through something similar. I’m 24 weeks pregnant and trying not to Google myself into oblivion.

At our 20-week anatomy scan, baby was growing overall normally (EFW 12th percentile), but the femurs and humeri were short:

• Femur: 28.1 mm, 4th percentile (~18w4d)
• Humerus: 28.1 mm, 7th percentile (~19w)
• FL/AC: 19.4%
• Bilateral pyelectasis (7.1 mm left, 5.7 mm right)
• Otherwise anatomy was normal.

We repeated the scan at 24 weeks, and the long bones are still short, but they did grow appropriately over the 4 weeks and are following their own curve:

• EFW: 23rd percentile
• AC: 60th percentile
• Femurs: <3rd percentile, measuring ~22w2–22w3d
• Humeri: ~9–10th percentile, measuring ~23w3d
• Ulnae/radii also <3rd percentile
• Tibiae ~4th percentile, fibulae ~9th
• Feet are normal size (~36–47th percentile)
• FL/AC: 19.2%
• Pyelectasis is stable at ~7 mm

The reassuring part is that everything else looks good: normal bone mineralization, no bowing or fractures, normal skull/profile, normal hands/feet, no bell-shaped thorax, no hydrops, normal fluid, and appropriate overall growth.

MFM specifically said they have low suspicion for a lethal skeletal dysplasia, but skeletal dysplasia is still on the differential because the long bones remain so short.

Our testing so far:

• Low-risk QNatal NIPT (T21/18/13, sex chromosomes, microdeletions)
• Normal NT
• Normal AFP
• Negative Vistara, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• We are now considering amniocentesis with CMA + exome sequencing

Our OB/genetic counselor seem to think the two biggest possibilities are constitutional short long bones vs. a mild skeletal dysplasia.

My husband and I are both 5'8".

Has anyone had persistent femurs/long bones <3rd percentile that continued to grow along their own curve, with otherwise reassuring anatomy?

Did your baby eventually catch up? Was it constitutional? Did you have amnio and did it find anything?

Looking for anyone who has been through something similar. I’m 24 weeks pregnant and trying not to Google myself into oblivion.

At our 20-week anatomy scan, baby was growing overall normally (EFW 12th percentile), but the femurs and humeri were short:

• Femur: 28.1 mm, 4th percentile (~18w4d)
• Humerus: 28.1 mm, 7th percentile (~19w)
• FL/AC: 19.4%
• Bilateral pyelectasis (7.1 mm left, 5.7 mm right)
• Otherwise anatomy was normal.

We repeated the scan at 24 weeks, and the long bones are still short, but they did grow appropriately over the 4 weeks and are following their own curve:

• EFW: 23rd percentile
• AC: 60th percentile
• Femurs: <3rd percentile, measuring ~22w2–22w3d
• Humeri: ~9–10th percentile, measuring ~23w3d
• Ulnae/radii also <3rd percentile
• Tibiae ~4th percentile, fibulae ~9th
• Feet are normal size (~36–47th percentile)
• FL/AC: 19.2%
• Pyelectasis is stable at ~7 mm

The reassuring part is that everything else looks good: normal bone mineralization, no bowing or fractures, normal skull/profile, normal hands/feet, no bell-shaped thorax, no hydrops, normal fluid, and appropriate overall growth.

MFM specifically said they have low suspicion for a lethal skeletal dysplasia, but skeletal dysplasia is still on the differential because the long bones remain so short.

Our testing so far:

• Low-risk QNatal NIPT (T21/18/13, sex chromosomes, microdeletions)
• Normal NT
• Normal AFP
• Negative Vistara, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• We are now considering amniocentesis with CMA + exome sequencing

Our OB/genetic counselor seem to think the two biggest possibilities are constitutional short long bones vs. a mild skeletal dysplasia.

My husband and I are both 5'8".

Has anyone had persistent femurs/long bones <3rd percentile that continued to grow along their own curve, with otherwise reassuring anatomy?

Did your baby eventually catch up? Was it constitutional? Did you have amnio and did it find anything?

Hi all. I had my anatomy scan last week. Overall baby looked good but we found two soft markers:

1. Short long bones
   **BPD (head width):** 31st percentile
   **Head circumference (HC):** 13th percentile
   **Abdominal circumference (AC):**37th percentile
   **Femur length (FL):** 4th percentile
   **Humerus length (HL):** 7th percentile
   **Estimated fetal weight:** 12th percentile
   **Observed:Expected Humerus Length (O:E HL):** 0.93 (**normal**)
   **Observed:Expected Femur Length (O:E FL):** 0.90 (**abnormal**)

2. Bilateral pyelectasis

I’ve been doing so much research and the long bones are borderline short, not dramatically so. If these were two isolated findings we wouldn’t be considering amnio but because we’ve found two it’s now on the table.

I would love to hear anyone’s perspective or if you’ve been in a similar scenario.

Hi all. I had my anatomy scan last week. Overall baby looked good but we found two soft markers:

1. Short long bones
   BPD (head width): 31st percentile
   Head circumference (HC): 13th percentile
   **Abdominal circumference (AC):**37th percentile
   Femur length (FL): 4th percentile
   Humerus length (HL): 7th percentile
   Estimated fetal weight: 12th percentile
   Observed:Expected Humerus Length (O:E HL): 0.93 (normal)
   Observed:Expected Femur Length (O:E FL): 0.90 (abnormal)

2. Bilateral pyelectasis

I’ve been doing so much research and the long bones are borderline short, not dramatically so. If these were two isolated findings we wouldn’t be considering amnio but because we’ve found two it’s now on the table.

I would love to hear anyone’s perspective or if you’ve been in a similar scenario.

Hi all, I’m trying to understand what might be going on in my pregnancy.

I am 34 and 20w pregnant. Just finished my anatomy scan yesterday with 2 soft markers IDed: short long bones and pyelectasis.

NIPT, NT scan, and AFP have all come back low risk.

Here are the critical findings from yesterday:

* BPD (head width): 31st percentile

* Head circumference (HC): 13th percentile

*** Abdominal circumference (AC):**37th percentile

* Femur length (FL): 4th percentile

* Humerus length (HL): 7th percentile

* Cerebellum: 17th percentile

* Estimated fetal weight: 12th percentile
* Observed:Expected Humerus Length (O:E HL): 0.93 (normal)
* Observed:Expected Femur Length (O:E FL): 0.90 (abnormal)
Bilateral pyelectasis
* Left renal pelvis: 7.1 mm
* Right renal pelvis: 5.7 mm
* FL/HC: Normal
* HC/AC: Normal
* FL/AC: Slightly below normal range

I’m looking for experiences from anyone who had a low-risk NIPT but then had two soft markers identified on the anatomy scan.
Background:
-34 years old

-Low-risk QNatal NIPT (including trisomy 21)

-Normal NT scan

-Normal AFP

20-week anatomy scan findings:
Growth:
Estimated fetal weight: 12th percentile

Head circumference: 13th percentile

Abdominal circumference: 37th percentile

Soft marker #1: Short long bones
Femur length: 28.1 mm (4th percentile)

Humerus length: 28.1 mm (7th percentile)

Soft marker #2: Bilateral urinary tract dilation (pyelectasis)
Left renal pelvis: 7.1 mm

Right renal pelvis: 5.7 mm

MFM discussed that short long bones and urinary tract dilation can be associated with trisomy 21, but also noted that with no other ultrasound markers and low-risk cfDNA, the increase in Down syndrome risk is only slight. Genetic counseling and amniocentesis were offered.
For anyone who had:
low-risk NIPT,

short femur/humerus (<10th percentile),

and pyelectasis,

what was your outcome? Did your baby end up being chromosomally normal? Did the long bones remain small, and did the kidney dilation resolve?
Thank you!