u/Used-Team-200

\*\*I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏\*\*

I am currently \*\*29 weeks pregnant\*\*. Following a detailed ultrasound, our baby girl was found to have \*\*short long bones measuring approximately 2 weeks behind\*\*, which led us to undergo whole exome sequencing (WES).

The WES identified a \*\*pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003\*)\*\*, detected in approximately \*\*24% of sequencing reads (VAF)\*\*. We were told that this is consistent with \*\*mosaicism of approximately 50% of the cells\*\*.

We were told that the main concern is \*\*Alagille syndrome\*\*, particularly the possibility of \*\*liver and bile duct involvement and cholestasis\*\*. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that \*\*NOTCH2-related Alagille syndrome is relatively rare\*\*, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict \*\*whether or how the variant will manifest in our baby, and how severe it might be\*\*.

We have been advised to have a targeted ultrasound focusing on the \*\*liver and gallbladder\*\*, but we were also told that a normal prenatal ultrasound \*\*cannot rule out liver disease or cholestasis developing after birth\*\*.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

\*\*I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:\*\*

\* \*\*NOTCH2-related Alagille syndrome\*\*
\* \*\*NOTCH2 mosaicism\*\*
\* The specific variant \*\*NOTCH2 c.6007C>T (p.Arg2003\*)\*\*
\* Prenatal diagnosis of NOTCH2/Alagille
\* Anyone who had a similar mosaic result and can share what happened after birth

\*\*We are truly looking for any information that could help us understand what this finding might mean for our baby.\*\* 🙏

**I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏**

I am currently **29 weeks pregnant**. Following a detailed ultrasound, our baby girl was found to have **short long bones measuring approximately 2 weeks behind**, which led us to undergo whole exome sequencing (WES).

The WES identified a **pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003*)**, detected in approximately **24% of sequencing reads (VAF)**. We were told that this is consistent with **mosaicism of approximately 50% of the cells**.

We were told that the main concern is **Alagille syndrome**, particularly the possibility of **liver and bile duct involvement and cholestasis**. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that **NOTCH2-related Alagille syndrome is relatively rare**, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict **whether or how the variant will manifest in our baby, and how severe it might be**.

We have been advised to have a targeted ultrasound focusing on the **liver and gallbladder**, but we were also told that a normal prenatal ultrasound **cannot rule out liver disease or cholestasis developing after birth**.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

**I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:**

* **NOTCH2-related Alagille syndrome**
* **NOTCH2 mosaicism**
* The specific variant **NOTCH2 c.6007C>T (p.Arg2003*)**
* Prenatal diagnosis of NOTCH2/Alagille
* Anyone who had a similar mosaic result and can share what happened after birth

**We are truly looking for any information that could help us understand what this finding might mean for our baby.** 🙏

\*\*I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏\*\*

I am currently \*\*29 weeks pregnant\*\*. Following a detailed ultrasound, our baby girl was found to have \*\*short long bones measuring approximately 2 weeks behind\*\*, which led us to undergo whole exome sequencing (WES).

The WES identified a \*\*pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003\*)\*\*, detected in approximately \*\*24% of sequencing reads (VAF)\*\*. We were told that this is consistent with \*\*mosaicism of approximately 50% of the cells\*\*.

We were told that the main concern is \*\*Alagille syndrome\*\*, particularly the possibility of \*\*liver and bile duct involvement and cholestasis\*\*. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that \*\*NOTCH2-related Alagille syndrome is relatively rare\*\*, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict \*\*whether or how the variant will manifest in our baby, and how severe it might be\*\*.

We have been advised to have a targeted ultrasound focusing on the \*\*liver and gallbladder\*\*, but we were also told that a normal prenatal ultrasound \*\*cannot rule out liver disease or cholestasis developing after birth\*\*.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

\*\*I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:\*\*

\* \*\*NOTCH2-related Alagille syndrome\*\*
\* \*\*NOTCH2 mosaicism\*\*
\* The specific variant \*\*NOTCH2 c.6007C>T (p.Arg2003\*)\*\*
\* Prenatal diagnosis of NOTCH2/Alagille
\* Anyone who had a similar mosaic result and can share what happened after birth

\*\*We are truly looking for any information that could help us understand what this finding might mean for our baby.\*\* 🙏

**I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏**

I am currently **29 weeks pregnant**. Following a detailed ultrasound, our baby girl was found to have **short long bones measuring approximately 2 weeks behind**, which led us to undergo whole exome sequencing (WES).

The WES identified a **pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003*)**, detected in approximately **24% of sequencing reads (VAF)**. We were told that this is consistent with **mosaicism of approximately 50% of the cells**.

We were told that the main concern is **Alagille syndrome**, particularly the possibility of **liver and bile duct involvement and cholestasis**. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that **NOTCH2-related Alagille syndrome is relatively rare**, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict **whether or how the variant will manifest in our baby, and how severe it might be**.

We have been advised to have a targeted ultrasound focusing on the **liver and gallbladder**, but we were also told that a normal prenatal ultrasound **cannot rule out liver disease or cholestasis developing after birth**.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

**I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:**

* **NOTCH2-related Alagille syndrome**
* **NOTCH2 mosaicism**
* The specific variant **NOTCH2 c.6007C>T (p.Arg2003*)**
* Prenatal diagnosis of NOTCH2/Alagille
* Anyone who had a similar mosaic result and can share what happened after birth

**We are truly looking for any information that could help us understand what this finding might mean for our baby.** 🙏

**I’m writing this post feeling completely heartbroken and desperate to find anyone who has been through something similar. 🙏**

I am currently **29 weeks pregnant**. Following a detailed ultrasound, our baby girl was found to have **short long bones measuring approximately 2 weeks behind**, which led us to undergo whole exome sequencing (WES).

The WES identified a **pathogenic variant in the NOTCH2 gene: c.6007C>T (p.Arg2003*)**, detected in approximately **24% of sequencing reads (VAF)**. We were told that this is consistent with **mosaicism of approximately 50% of the cells**.

We were told that the main concern is **Alagille syndrome**, particularly the possibility of **liver and bile duct involvement and cholestasis**. According to our genetic counselor, the long-bone shortening that initially led us to the exome may not necessarily be related to the NOTCH2 finding.

We had a genetic consultation with a professor who explained that **NOTCH2-related Alagille syndrome is relatively rare**, and that he has not personally encountered mosaicism in this gene. Because of this, it is very difficult to predict **whether or how the variant will manifest in our baby, and how severe it might be**.

We have been advised to have a targeted ultrasound focusing on the **liver and gallbladder**, but we were also told that a normal prenatal ultrasound **cannot rule out liver disease or cholestasis developing after birth**.

This has put us in an incredibly difficult position. We are trying to make decisions about the pregnancy while having so much uncertainty about the potential severity of the condition.

**I would be incredibly grateful for any information, personal experience, medical experience, or research that anyone may have regarding:**

* **NOTCH2-related Alagille syndrome**
* **NOTCH2 mosaicism**
* The specific variant **NOTCH2 c.6007C>T (p.Arg2003*)**
* Prenatal diagnosis of NOTCH2/Alagille
* Anyone who had a similar mosaic result and can share what happened after birth

**We are truly looking for any information that could help us understand what this finding might mean for our baby.** 🙏