Whole Genome Sequencing (WGS) - Carrier Status Testing

Introduction

Why is genetic carrier testing useful?

Genetic carrier testing is important because it helps people know if they carry genes for certain inherited diseases that they might pass on to their children, even if they don’t show signs of those diseases themselves. This can help couples make informed decisions about their health and family planning.

The Facts

• Monogenic diseases are responsible for about 20% of infant deaths and 18% of children being hospitalized.

• Screening for carrier status, combined with genetic counseling, has led to a significant drop in the number of severe recessive genetic diseases.

There are many genetic disorders that can be checked before birth

but not all of them are tested for regularly

• There are over 1,300 genetic disorders that can be detected before birth, but only around 300 are checked with traditional tests.

• By using advanced DNA testing methods- called whole genome sequencing (WGS), patients can get a clearer picture of the risks of passing on genetic conditions that could affect their children.

• This includes testing for disorders that can lead to miscarriage or problems during pregnancy.

WGS Carrier Test

with Abnormal Prenatal Development Analysis

This test looks for harmful genetic changes linked to known inherited disorders

• The test looks at over 5,000 diseases and 3,000 genes.

• It also provides a detailed analysis of 555 genes related to carrier risks and 1,400 genes linked to childhood disorders, based on research from Harvard Medical School and Boston Children's Hospital.

• It also covers disorders recommended by major medical organizations like ACOG and ACMG.

Miscarriage or problems during pregnancy

• Additionally, the test examines 710 genes linked to over 700 conditions that can cause miscarriage or problems with pregnancy development. These disorders are often the cause of repeated miscarriages.

Pregnancy Disorders That Genetic Testing Can Detect in the Mother

1️⃣ Recurrent Pregnancy Loss (RPL) 🏥

• Some women have genetic mutations affecting blood clotting or hormone regulation, leading to multiple miscarriages.

• Genes involved: F2 (Prothrombin), F5 (Factor V Leiden), MTHFR (linked to folate metabolism).

2️⃣ Preeclampsia & Hypertension Disorders ⚠️💉

• Certain genetic variations make women more prone to high blood pressure, swelling, and organ damage during pregnancy.

• Genes involved: FLT1, ENG, ACE (linked to vascular function).

3️⃣ Gestational Diabetes Mellitus (GDM) 🍬🩸

• Some women have genetic risk factors that increase insulin resistance during pregnancy.

• Genes involved: TCF7L2, MTNR1B (related to glucose regulation).

4️⃣ Thrombophilia (Blood Clotting Disorders) 🩸❗

• Genetic mutations can increase the risk of dangerous blood clots, which may cause miscarriage or pregnancy complications.

• Genes involved: F5 (Factor V Leiden), F2 (Prothrombin mutation), MTHFR.

5️⃣ HELLP Syndrome (Hemolysis, Elevated Liver Enzymes, Low Platelets) 🏥

• A severe pregnancy complication linked to inherited clotting disorders or immune dysfunction.

• Genes involved: ACE, SERPINE1 (affecting blood pressure & clotting).

6️⃣ Intrauterine Growth Restriction (IUGR) 👶📉

• Genetic factors can impair placental function, leading to poor fetal growth.

• Genes involved: NOS3, VEGFA (affecting blood flow to the placenta).

7️⃣ Eclampsia & Seizures During Pregnancy ⚡🧠

• Some genetic mutations increase the risk of severe high blood pressure leading to seizures.

• Genes involved: AGT, REN (related to blood pressure regulation).

8️⃣ Cholestasis of Pregnancy (ICP) 🧬💛

• A liver disorder where genetic mutations affect bile acid transport, leading to severe itching and risk of stillbirth.

• Genes involved: ABCB11, ATP8B1 (bile acid transporters).

Why Genetic Testing Matters

✅ Early Detection – Allows preventive care and better pregnancy management.
✅ Personalized Treatment – Doctors can tailor medications, diet, and monitoring based on the genetic risk.
✅ Better Pregnancy Outcomes – Reduces risk of miscarriage, preterm birth, or complications.