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Benefits of prenatal diagnosis and newborn screening

Benefits of prenatal diagnosis and newborn screening

  Screening, prenatal and neonatal diagnosis are recognized as an essential public health program to reduce mortality and physical and mental retardation right from the beginning of human life. There are many cases of disability that can be prevented if there is an appropriate national program for prenatal and neonatal screening and early intervention.

The purpose of prenatal and neonatal diagnostic screening:

Screening, prenatal and neonatal diagnosis for early detection, intervention and treatment of diseases, diseases, metabolic and genetic disorders right in the fetal and newborn stages help children to be born normally or avoid There are serious physical and intellectual consequences, reducing the number of disabled people, intellectual disabilities in the community, contributing to improving the quality of the population.

Screening process, prenatal diagnosis:

  • Prenatal screening and diagnosis in the first 3 months of pregnancy:
  • Fetal ultrasound:
  • Measure nape skin at 11 weeks to 14 weeks to detect the risk of Down syndrome and some other conditions.
  • Detecting other abnormal signs such as cranial pregnancy, cleft abdominal wall, nasal bone ...
  • Mother's blood test:
  • Double test: Detects Down syndrome and some other fetal chromosomal abnormalities.
  • Routine blood tests, hepatitis B, HIV, Rubella ...
  • Vegetable papillary biopsy: a diagnosis of suspected cases of abnormalities via ultrasound or maternal blood tests; history of pregnant women with children with birth defects or chromosomal abnormalities; family history of people with developmental delays or birth defects; The father or mother has been diagnosed with the structural anomaly of the chromosome ...
  • Screening for prenatal diagnosis in the middle of pregnancy:
  • Ultrasound morphology and structure of fetal organs, discovered:

+ Abnormalities of the nervous system such as: cranial, meningeal hernia, hydrocephalus, small skull, spinal meningeal hernia, spina bifida ...

+ Abnormalities of cardiovascular system such as valvular malformations, major vascular abnormalities, ventricular hypertrophy, ventricular dysplasia ...

+ Disorders of the stomach - intestines such as intestinal atrophy, abdominal wall slit, umbilical hernia ...

+ Malformations of the genitals - urinary system: water retention kidney, polycystic kidney, kidney dysfunction, urethral valve ...

+ Musculoskeletal malformations: bone dysplasia, fractures, short limbs ...

  • Mother's blood test:

+ Triple test: Triple test: detect chromosomal abnormalities (Down syndrome), neural tube defects.

+ Routine blood tests, HIV, hepatitis B ...

  • Amniocentesis: to diagnose suspected cases of abnormalities via ultrasound or maternal blood tests; history of pregnant women with children with birth defects or chromosomal abnormalities; family history of people with developmental delays or birth defects; The father or mother has been diagnosed with the structural anomaly of the chromosome ...
  • Newborn screening and diagnosis:

Current diseases screened and diagnosed by newborns:

+ Congenital hypothyroidism

+ Lack of G6PD enzyme

+ Congenital adrenal hyperplasia

+ Some congenital metabolic disorders of amino acids, organic acids and fatty acids.

   Explain some technical terms:

STT

Terms

Define

1

Screening

The use of simple, easy-to-apply, high-precision exploration methods to detect individuals in a certain community is at risk or will suffer from a certain disease.

- Prenatal screening is conducted during pregnancy;

- Newborn screening is conducted immediately in the first days after birth;

2

Prenatal diagnosis

The use of specific exploration measures is carried out during pregnancy to confirm the suspected cases of infection through screening.

3

Newborn diagnosis

The use of specific methods of exploration and testing for children right in the first days after birth to confirm the suspected cases of infection through screening.

4

Birth defects

The defect of the body during the fetal period is due to genetic or non-genetic factors.