Last Updated on 10 November 2024 by นพ.ประสิทธิ์ วิริยะกิจไพบูลย์

NIFTY® Pro test detects 92 Microdeletion / Duplication abnormalities.

For mothers who are choosing a Down syndrome test, you may be familiar with the NIPT test brand NIFTY Pro. The NIFTY test is a Down syndrome screening test with an accuracy of up to 99.9% compared to amniocentesis.

The NIFTY Pro brand of NIFTY testing is more special than other brands of Down syndrome screening, which is that NIFTY Pro can detect diseases caused by Microdeletion (the loss of a small part of the genetic sequence in a chromosome) or Microduplication (the addition of a small part of the genetic sequence in a chromosome) which can cause abnormalities.

For mothers who are deciding which brand of chromosome and Down syndrome screening to choose, because the one that can detect Microdeletion (NIFTY Pro) is more expensive than the others (NIFTY Core, NIFTY Focus, NGD NIPS), we have written this article to introduce chromosomal abnormalities caused by the deficiency/excess of small chromosome fragments that NIFTY Pro can detect.

Originally, the number of Microdeletions / duplications that NIFTY Pro can detect was as many as 84, but recently on August 21, 2023, it was announced that it would be increased to 92, as shown in the picture.

Previously, the NIFTY Pro test had 84 Microdeletion/Duplication items. However, on August 21, 2023, the Bangkok Genomics Medical Technology Clinic (Bangkok Genomics Innovation Public Company Limited) announced a change in the details of the NIFTY test to ensure that service recipients receive the most benefit from using the service by increasing the number of items to 92.

Each abnormality that can be detected will have an example of the abnormality as follows:

Examples of abnormalities resulting from Microdeletion / Duplication syndrome

Cri du chat Syndrome or Cat cry syndrome (5p deletion syndrome)

Chance of occurrence: 1/20,000 – 1/50,000

Common abnormalities: Microcephaly, low birth weight, muscle weakness, and moderate to severe low intelligence. Swallowing, feeding, and/or breathing problems are common.

1p36 deletion syndrome

Chance of occurrence: 1/5,000

Common abnormalities: Muscle weakness, abnormalities of internal organs such as the heart, and often have problems with development of both the body and brain. IQ can range from mild to severe.

2q33.1 deletion syndrome

Chance of occurrence: Unknown

Common abnormalities: Slower than normal growth, behavioral and learning problems, severe eating and feeding disorders, and cleft lip and palate are common.

16p12.2 deletion syndrome

Chance of occurrence: Unknown

Common abnormalities: Appearance is different from other children, eating problems, recurrent ear infections, slow growth, and low intelligence.

Jacobsen syndrome (11q23 deletion syndrome)

Chance of occurrence: 1/100,000

Common abnormalities: Slow growth, slow emotional and muscle development, abnormal skull structure (Trigonocephaly), intermittent squinting, and abnormal ears that are lower in position than normal infants.

Van der Woude syndrome (1q32.2 deletion syndrome)

Chance of occurrence: 1/35,000 – 1/100,000

Common abnormalities: Similar to Jacobsen syndrome, there is slow growth, slow emotional and muscle development, abnormal skull structure (trigonocephaly), intermittent squinting and abnormal ears that are lower than normal in infants.

Angelman syndrome or Prader-Willi syndrome (15q11.2 deletion syndrome)

Chance of occurrence: 1/10,000 – 1/20,000

Common abnormalities: In cases of Prader-Willi syndrome, there is muscle weakness, obesity in the midsection, eating problems, abnormalities of the sex glands that produce abnormal sex hormones, infertility, and low intelligence.

In cases of Angelman syndrome, there is low intelligence, microcephaly, seizures, abnormal movements, and abnormal brain waves.

Treatment methods

Since these abnormalities are chromosomal abnormalities, they cannot be treated. If it is found that the mother’s fetus has such an abnormality, you can decide with the doctor who is taking care of your pregnancy whether or not to terminate the pregnancy. Or if you do not want to terminate the pregnancy, how will you prepare during the birth? And will you be able to prepare to take care of him until he grows up happy and disrupts the family’s quality of life as little as possible?

Compare NIFTY Pro test with other brands in terms of the number of diseases that can be detected.

Last update 21 August 2023

• • NIFTY Pro (อ้างอิง) แบรนด์จากฮ่องกง (ปัจจุบันมีศูนย์ตรวจอยู่ที่ประเทศไทย) สามารถตรวจได้มากถึง 92 Microdeletion / Duplication

• • NICE ( Reference ) from Korea can detect 8 Microdeletions.

• • Panorama ( reference ) from the United States can detect 5 Microdeletions.

• • MomGuard ( ref ) cannot detect Microdeletions (but does detect 27 postnatal genes).

• • NGD NIPS from Thailand cannot detect Microdeletion.

• • Thai NIPT (referenced from Facebook because the original website is infected with a virus) from Thailand cannot detect Microdeletion.

• • Qualifi ( reference ) from the United States cannot detect Microdeletion.

• • G-NIPT ( reference ) from Korea can be tested but the number is not reported.

• • NIPT Faest (referenced from Facebook due to the original website being infected with a virus) cannot detect Microdeletion.

สำหรับการเปรียบเทียบอย่างละเอียด สามารถอ่านเพิ่มเติมได้ที่นี่ ตารางเปรียบเทียบการตรวจคัดกรองดาวน์ซินโดรม ยี่ห้อ (Brand) ต่างๆ

ตารางเปรียบเทียบรายการตรวจโรค Microdeletion / Duplication ที่เด่นๆ และ Brand ไหนที่ตรวจได้