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Discover the Best Gift for Valentine’s Day: Plan for a Healthy Family

This Valentine’s, Gift your other half the promise of a healthy family.


Happy Asian Couple

Planning for a baby with your Valentine?


Every parent hopes to welcome a healthy child, but in reality, it has been estimated that 1 in 2 spouses are carriers of one or more serious recessive genetic disorder.[1] These genes typically do not manifest symptoms in themselves under normal circumstances, but they may lead to risks such as recurrent miscarriages, fetal deformities, disabilities, or the presence of congenital hereditary diseases in the foetus. However, there is a lack of awareness among the public regarding these health risks in pregnancy. Many people mistakenly believe that without a family medical history, there is no risk of genetic diseases, overlooking the risk of hereditary recessive disorders which manifest in the child but not the parent. 🧬👶


What are hereditary recessive disorders?  


Hereditary recessive disorders can cause serious congenital defects in babies and foetuses. According to the Census Statistics till 2021, 33.8% of congenital anomalies contributed to early infant mortality.[1] Out of which, up to 40% are caused by genetics.[2]


Top 3 conditions with the highest carrier rates in Southern Chinese population [1]:


  1. Hereditary Deafness (Type DFNB1A):24.5%

  2. Alpha Thalassemia: 8.9%

  3. Spinal Muscular Atrophy, Type 1: 2.1%


There are two kinds of heritable recessive conditions: Autosomal recessive and X-linked.


Autosomal recessive disorders


Family Pedigree for Autosomal Recessive Inheritance

In autosomal recessive disorders, parents carrying a pathogenic mutation have an elevated chance of giving birth to an unaffected offspring, with the risk being as high as 25% if both spouses are carriers. Congenital Deafness (Type DFNB1A) and Alpha Thalassemia are examples of autosomal recessive disorders.


X-linked disorders


Family pedigree for X-linked inheritance

The genes affecting X-linked disorders are located on the X chromosomes, and could be inherited from both parents to offspring. Females may be carrier of X-linked disorders but are less likely to manifest the disease and may appear asymptomatic, since they have two chromosomes to compensate for a pathogenic mutation in one chromosome. Duchenne muscular dystrophy and haemophilia are examples of X-linked disorders.


Recessive conditions are preventable and can be managed early


What is carrier screening?


In 2021, internationally renowned expert groups such as the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG), have recommended:


Expert recommendations [1]


  • All individuals considering pregnancy to be offered expanded carrier screening of recessive conditions

  • Expanded and comprehensive screening of recommended clinically severe diseases


Carrier screening aims to identify couples who may be at risk of having a child with medically serious single-gene conditions. Before conception, this screening allows couples to take proactive steps to reduce the risk of an affected pregnancy. These steps include options such as in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease (PGT-M), using donor gametes that do not carry harmful variants, considering adoption, or even choosing to avoid pregnancy altogether. During pregnancy, at-risk couples can make informed decisions about prenatal diagnostic testing and pregnancy management.


Where are these tests provided?


Currently, these tests are not provided to all couples routinely by the government. Comprehensive expert-recommended screening tests have to be ordered by couples and individuals considering pregnancy independently.

 

580+ genes carrier screening with CoGenesis® Family


The CoGenesis® Family carrier screening test includes 587 genes related to more common pan-ethnic recessive genetic diseases, such as alpha thalassemia, congenital deafness, spinal muscular atrophy, and various severe syndromes, which are the most common among Chinese. It also includes 80+ treatable congenital metabolic defects that can benefit from early pregnancy and newborn planning.

The CoGenesis® Family carrier screening test includes 587 genes related to more common pan-ethnic recessive genetic diseases, such as alpha thalassemia, congenital deafness, spinal muscular atrophy, and various severe syndromes, which are the most common among Chinese. It also includes 80+ treatable congenital metabolic defects that can benefit from early pregnancy and newborn planning.



Published on February 9, 2024. Version 1.


References

1.     Chau et al. Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese. npj Genom. Med. 7, 23 (2022). https://doi.org/10.1038/s41525-022-00287-z

2.     Department, T.H.K.C.a.S., Trends of infant mortality in Hong Kong, 1951 to 2021. 2023.

3.     Deltsidou et al. Review of Clinical Pharmacology and Pharmacokinetics - International Edition 14(3):111-115. 1,(2000).

4.     Gregg et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 23, 1793–1806 (2021). https://doi.org/10.1038/s41436-021-01203-z


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