Non-Invasive Prenatal Testing (NIPT) in Bangkok and Beyond - MedEx (2024)

Non-Invasive Prenatal Testing (NIPT) is a revolutionary method used to screen for certain genetic conditions in a fetus. This advanced screening technique is performed using a blood sample from the pregnant mother, making it a safer alternative to traditional invasive procedures such as amniocentesis or chorionic villus sampling (CVS). NIPT analyzes cell-free fetal DNA (cffDNA) circulating in the mother's blood to detect abnormalities with remarkable accuracy and minimal risk to both the mother and the unborn baby.

1. Determining the Baby's Gender through NIPS: NIPS can accurately determine the baby's gender as early as the 10th week of pregnancy. By analyzing the presence or absence of Y chromosomes in the cell-free fetal DNA, the test can identify whether the baby is male or female. This early gender determination is not only exciting for expectant parents but can also be important for assessing the risk of sex-linked genetic disorders.

2. Down Syndrome (Trisomy 21): NIPS is renowned for its high accuracy in detecting Down syndrome, a condition caused by an extra copy of chromosome 21. The test boasts a detection rate of over 99% for this chromosomal abnormality. Early identification allows parents to prepare and seek appropriate medical care and support if necessary. NIPS can significantly reduce the need for invasive diagnostic tests, thereby lowering the risk of complications associated with such procedures.
3. Edwards Syndrome (Trisomy 18):This condition is characterized by the presence of an extra chromosome 18 and is associated with severe developmental delays and physical abnormalities. NIPS effectively screens for Edwards syndrome, providing accurate results with a high detection rate. Early detection through NIPS allows for informed decision-making and planning for the necessary medical and supportive care.
4. Patau Syndrome (Trisomy 13): NIPS can detect the presence of an extra chromosome 13, which is responsible for Patau syndrome. This condition is often associated with severe intellectual disabilities, congenital heart defects, and other significant health issues. The high sensitivity of NIPS for detecting Trisomy 13 enables early diagnosis, allowing parents and healthcare providers to prepare for potential medical interventions and support.
5. Screening for Sex Chromosome Abnormalities

• Turner Syndrome (XO): Characterized by the presence of a single X chromosome, Turner syndrome affects females and can lead to short stature, infertility, and various health issues. NIPS can identify this condition early, enabling timely medical care.
• XYY Syndrome: This condition, where males have an extra Y chromosome, may be associated with taller stature and learning difficulties. NIPS can detect XYY syndrome, providing early insights into potential developmental support needs.
• Klinefelter Syndrome (XXY): Males with an extra X chromosome may experience symptoms such as reduced testosterone levels, delayed puberty, and infertility. Early detection through NIPS allows for appropriate management and treatment.
• Triple X Syndrome (XXX): Females with an extra X chromosome often exhibit mild symptoms, which can include learning disabilities and tall stature. NIPS can identify Triple X syndrome, assisting in early intervention and support planning.

NIPT offers several significant benefits over traditional prenatal screening and diagnostic methods:

1. Safety: As a non-invasive procedure, NIPT eliminates the risk of miscarriage associated with invasive tests like amniocentesis and CVS.
2. Early Detection: NIPT can be performed as early as the 10th week of pregnancy, allowing for earlier detection and decision-making.
3. High Accuracy: With a sensitivity and specificity rate of over 99% for detecting common trisomies, NIPT provides highly reliable results.
4. Peace of Mind: Expectant parents can gain reassurance through early and accurate information about their baby's health.

NIPT is recommended for all pregnant women, regardless of age or risk factors. However, it is particularly beneficial for:

1. Women of Advanced Maternal Age: The risk of chromosomal abnormalities increases with maternal age, making NIPT a valuable option for older expectant mothers.
2. Those with a Family History of Genetic Disorders: Women with a known family history of chromosomal abnormalities can benefit from the early and accurate screening offered by NIPT.
3. Previous Pregnancy with Chromosomal Abnormalities: If a previous pregnancy was affected by a chromosomal condition, NIPT can provide early insights in subsequent pregnancies.
4. Positive Results from Initial Screening: Women who receive positive results from initial prenatal screening tests can use NIPT for further clarification and confirmation.