Introduction
Microdeletion syndromes and single-gene disorders are mostly matters of probability and are not correlated with the age of the pregnant mother. Indeed, many abnormal babies in Taiwan have been born to young parents. Conventional chromosome analysis and DNA microarray analysis of amniotic fluid are only able to detect chromosomal and micro-segment abnormalities and cannot quickly test large numbers of single-gene disorders.
Clinical symptoms of microdeletion syndrome and single-gene disorders include:
■Developmental delays, small for gestational age or fetal growth retardation, intrauterine growth restrictions.
■Abnormal brain development, mental retardation, speech disorders, epilepsy
■Learning disabilities, emotional disorders
■Neuromuscular dysplasia, abnormal muscle tone
■Cardiovascular abnormalities
■Other congenital dysplasias
■Skeletal dysplasias, abnormal facial features and limbs
For more syndromes details, please check HERE
Indication
Recommended by the International Society
In the Committee Opinion published in December 2013, the American College of Obstetricians and Gynecologists (ACOG) clearly indicated that chromosomal deletion syndromes are not related to the mother’s age. They recommended gene array testing for expecting mothers of all ages, not only those over the age of 35.
Description
Patient Story
CASE 01
Yi-jun (pseudonym), age 30, discovered fetal abnormalities during a level 2 ultrasound at 22 weeks of pregnancy, including a naval protrusion (acromphalus) and an accumulation of cerebrospinal fluid within the brain (hydrocephalus). After receiving a detailed explanation from her doctor, she decided to terminate the pregnancy and undergo a SOFIVA array test to understand what had caused these abnormalities. A 10.59-Mb microdeletion was found on Chromosome 7 of the fetus, and a comparison with the parents’ genes revealed that the mutation was spontaneous, not hereditary. Fortunately, Yi-jun’s next pregnancy tested normal, and she gave birth to a healthy, full-term baby.
CASE 2
Yu-fang (peudononym) took an amniotic fluid chromosome test and an SNP array during her pregnancy, and all test results were normal. However, after birth, her baby looked different from normal babies, and chromosomal or genetic abnormalities were suspected to be the cause. Her doctor therefore suggested a SOFIVA array v 3.0 test. The results revealed that her baby had a c.1138 spontaneous mutation in the FGFR3 gene, and her baby was later confirmed to have dwarfism.
How It Works
1. Listen to the doctor’s complete explanation and fill out consent form
2. Doctor takes suitable sample
3. Sample is sent to SOFIVA's labs for testing
4. Report is produced and doctor arranges for return visit to explain test results