Genetic testing of inherited diseases in newborn

1.How many types of birth defects are there?
Congenital anomalies are the structural, functional or metabolic abnormalities of the infant body occurred before birth, including congenital malformations, chromosomal abnormalities, genetic metabolic disorders, abnormal functions (e.g. Blind, deaf and mental retardation, etc). They are the major causes for infant death and congenital disabilities. The birth defect rate in our country is 5.6% and there are about 900,000 newborn with birth defects annually. And this number will increase gradually with the enforcement of two-child policy, deteriorating environment pollution, food safety and the development of detection technology.

2.Understanding the disease screening and genetic screening for newborn.
Disease screening for newborn is the third line of defense to prevent birth defects. It is the early stage screening and diagnosis for congenital diseases of newborn so that treatment and rehabilitation measures could be taken to proactively prevent the influence of hereditary diseases. Genetic screening is one of the neonatal disease screening methods. It timely detects the causative gene loci of monogenic diseases by means of gene sequencing and it is the first line of security check for every newborn. This technique will improve the therapeutic effects with specific clinical therapy aims via genetic screening.

3.Is there any potential problem if the gene screening results of newborn are normal?
You still need to consult your doctor to prepare for the diseases prevention and follow-up checkout even the screening results are normal.

4.Is there any time restriction for sample collecting from the babies?
No restriction on the time of sample collection, this can be done at any time.

5.Whether such screenings are specific for infants with family histories of disease only?
Among the genetic diseases, some take place with familial transmissibility. It is necessary for these people to do the gene screening for their offspring to make sure whether their babies have the malady. There are some inherited disorders that are induced by gene mutations. There is still the possibility for the babies to suffer from the ailments even without family history of the diseases. So genetic screening is required and necessary for those people too.