A child's health cannot wait! Some abnormal conditions are difficult to detect from appearance alone, which is when professional screenings are essential. From pregnancy to after the baby is born, Phalanx Biotech offers comprehensive prenatal and postnatal genetic testing, helping parents care for their baby’s health early on, ensuring they can watch their child grow happily. From pre-pregnancy to birth, various prenatal and postnatal tests are typically performed. Now, mothers can choose to add genetic testing from the early stages of pregnancy, providing extra peace of mind for both mother and baby.

First Trimester of Pregnancy: NIPTs Screening for Potential Fetal Diseases

Most mothers have heard of Down syndrome, which is currently the most common intellectual disability. It is recommended that mothers undergo related prenatal screening during the first trimester (11–14 weeks) at their own expense.NIPTs has a detection rate of over 99% for Down syndrome, significantly reducing anxiety for mothers by identifying fetal abnormalities early. Additionally, it can screen for 87 skeletal development abnormalities, such as dwarfism, providing early insights into the baby’s health.

NIPT is a non-invasive prenatal chromosomal screening for fetuses, designed for expectant mothers who are at least 10 weeks pregnant. By drawing approximately 10ml of blood, fetal cell-free DNA is extracted and analyzed using next-generation sequencing technology and bioinformatics to detect chromosomal abnormalities. In addition to Down syndrome, the test also screens for other chromosomal abnormalities, such as Edwards syndrome and Patau syndrome, with a detection rate of over 99%.

The blogger Hua Hua's NIPTs experience: Test for Hundreds of Conditions in Your Baby, Including Skeletal Development!

I often scroll through my phone and see pictures of children with rare diseases, and it fills me with sadness. What breaks my heart even more is seeing parents, out of love and hope, not giving up and staying by their side as they grow. It's only after becoming a parent that I truly understand how hard this is...,’ says Hua Hua, a blogger currently expecting her second child.

Blogger Hua Hua mentioned that she is nearing the age of an older expectant mother, and as age increases, so does the risk of fetal abnormalities. Every mother hopes for a healthy and safe pregnancy, so after thorough research, she chose Phalanx Biotech's "Non-Invasive Fetal Chromosomal Genetic Testing NIPT 3.0." This test screens for over 100 genetic disorders, including 87 "skeletal genes" to help prevent conditions like dwarfism. The testing process is simple, convenient, and fast, which made her feel it was well worth it!

Before the test, a healthcare professional provides health education to the expectant mother. Then, just like a regular prenatal check-up, a blood sample is taken—about 10cc in total. The sample is collected using specialized tubes to keep the blood fresh and is quickly sent to the genetic testing center at National Cheng Kung University. The testing and analysis are done locally in Taiwan, and the results are typically available within two weeks.

Blogger Hua Hua mentioned that if the NIPT results indicate a high-risk category, Phalanx Biotech also offers free abnormality verification, providing additional peace of mind for mothers. After the baby is born, further tests for conditions such as hearing loss and cytomegalovirus can be conducted. This comprehensive service is truly convenient and reassuring for expectant mothers! She shared that with today's advanced biotechnology, genetic testing can detect many conditions that were impossible to identify in the past.

Second Trimester of Pregnancy: Karyotype Analysis＋Amniotic Fluid Microarray Dual Testing

In the second trimester (15–20 weeks), some expectant mothers undergo amniocentesis, a test that examines the amniotic fluid to detect chromosomal abnormalities in the fetus. However, due to the resolution limitations of traditional karyotype analysis, the results can be limited, making it difficult to detect small chromosomal deletions. This may lead to overlooking hundreds of potential genetic disorders in the fetus.

Amniotic fluid microarray testing breaks down large gene segments into smaller pieces for detailed analysis, enhancing the resolution by nearly a thousandfold. This allows for the detection of over 500 genetic disorders in a single test, particularly conditions such as developmental delays or intellectual disabilities. It also screens for genetic diseases specific to Asians, such as Alpha Thalassemia, which has a carrier rate of 4% in Taiwan. If a baby is diagnosed with this severe condition, they may not survive or require lifelong blood transfusions.

The process for amniotic fluid microarray testing is also very simple. During amniocentesis, the doctor will draw an additional 10cc of amniotic fluid for use in the microarray analysis. By choosing both karyotype analysis and amniotic fluid microarray testing, parents can gain a more comprehensive understanding of their baby’s health.

Fitness Mom Ally Easily Completes Amniotic Fluid Microarray Testing, Quickly Screening for 500 Diseases!

Amniocentesis is not limited to older mothers, and chromosomal abnormalities don't only occur in pregnancies of older women!’ says Ally, a blogger currently five months pregnant with her first child. She recently experienced Phalanx Biotech's amniotic fluid microarray testing, which made her feel that 'it provides extra assurance for the baby and gives parents greater peace of mind!

She admitted that when her friends first heard she was going to have an amniocentesis, they were puzzled and asked, "You're not an older mom, why do it? Is the test expensive? Will it hurt?" However, Ally believes that amniocentesis is not exclusively for older mothers—chromosomal microdeletions can occur at any age in pregnant women, and it should not be taken lightly!

Karyotype analysis through amniocentesis primarily detects large chromosomal deletions. However, when combined with high-resolution amniotic fluid microarray testing, using probes on the microarray to detect even small chromosomal deletions, it provides a clearer view of chromosomal changes. This increases the chances of identifying diseases caused by minor chromosomal deletions. Phalanx Biotech's microarray can detect over 500 diseases in one test, with a detection rate more than four times that of karyotype analysis. Importantly, their microarray is developed and manufactured entirely in Taiwan, based on technology transferred from the Industrial Technology Research Institute, offering even greater peace of mind!

After completing the amniocentesis, Ally shared that she only felt a slight soreness in her abdomen at the time, and she was even able to attend classes that evening. The next day, she experienced no significant discomfort, and it wasn’t as scary as she had imagined. She also encouraged other expectant mothers considering amniocentesis to add the amniotic fluid microarray test in addition to karyotype analysis for more comprehensive results. "Trust yourself and your baby with Phalanx Biotech, and wait for your little one’s arrival with peace of mind!

Within 3 Months of Birth: Extra Assurance with Newborn Genetic Testing at Your Own Expense

Expectant mothers successfully pass various prenatal screenings, and their babies arrive safely into the world. According to the Ministry of Health and Welfare, the rate of newborn screenings in Taiwan consistently remains above 99%. While celebrating the joy of welcoming a new life, parents should not forget the importance of newborn screening!

It is worth noting that hearing loss is one of the most common congenital conditions in newborns. According to research, the incidence of congenital moderate to severe hearing impairment in newborns in Taiwan is approximately 1 to 3 per 1,000. Sensorineural hearing loss affects 1% to 5% of the total pediatric population, with about two-thirds of cases being caused by genetic factors.

Therefore, parents are encouraged to opt for additional self-funded tests for their baby! Hearing and intellectual issues are often difficult to detect early, and if abnormalities are present, they may hinder a child's future learning. In addition to the basic screenings subsidized by the government, for those wanting more comprehensive testing for their child, Hualian Biotech offers self-funded options, including growth and development genetic screening, hearing loss genetic screening, and sleep apnea screening. A healthy body is the best gift for both the baby and the parents!

Resource: Mom & Baby https://www.mombaby.com.tw/articles/9919445