Aneuploidy Screening

A form of genetic testing, aneuploidy screening identifies chromosomal defects

 

Advanced testing called aneuploidy screening helps Dr. James Douglas identify missing or extra chromosomes that could cause miscarriage or a life altering disorders. This proactive form of preconception testing allows for decision-making before the IVF transfer and conception takes place.

 

IVF Plano is a leading fertility center offering aneuploidy screening with preimplantation genetic diagnosis and screening, PGD/PGS. This simply means having the opportunity for peace of mind during pregnancy when you opt for early chromosomal testing.

 

Dr. Douglas illustrates the process of aneuploidy screening with the double helix that represents DNA. H-shaped human chromosomes contain our DNA and instructions for how we look, think and act.

 

Understanding aneuploidy screening

 

A baby’s mother and father each contribute a chromosome, forming a pair. Embryos with complementary, balanced pairs of chromosomes are more likely to implant, grow into viable pregnancies and develop into healthy children and adults.

 

According to the March of Dimes, about 1 baby in 150 is born with chromosomal defects. The problems occur when more or fewer than two chromosomes are present in each of the 23 positions.

 

  • A missing chromosome = monosomy
  • An extra chromosome = trisonomy

 

One of the most common chromosomal defects, Down syndrome, occurs when chromosome 21 has three, rather than two, chromosomes. Your obgyn may refer to Down syndrome as Trisomy 21, indicating the extra copy (tri) and where it is found (21).

 

Who needs aneuploidy screening?

You may know someone, or have experienced yourself, an amniocentesis prenatal test during the second trimester. Doctors would offer amnios to women over 35 because they have a higher risk for having babies with chromosomal defects.

 

A more advanced option, aneuploidy screening analyzes DNA before the embryo has been transferred to the uterus. Dr. Douglas may recommend this genetic test if you have certain risk factors.

 

  • Women over 35 (the risk for chromosomal defects is 1 in 66 by a woman’s 40th birthday)
  • Women with a history of recurrent miscarriage
  • Women with one or more failed IVF cycles
  • Women with a products of conception test that indicated chromosomal abnormalities

 

IVF and aneuploidy screening

Dr. Douglas can explain the benefits to this genetic testing well before beginning your IVF cycle. Not every couple will need this advanced IVF lab technique, but it can provide essential information to anyone with an elevated risk for miscarriage or chromosomal issues.

 

Chromosomes hold our genes, which we pass along to our children. A preconception genetic test now helps identify extra or missing chromosomes, as well as translocations of chromosomes.

 

Contact Dr. James Douglas with IVF Plano to explore your options for conceiving a baby, and utilizing advanced fertility treatments such as aneuploidy screening when necessary.

 

http://www.marchofdimes.org/baby/chromosomal-conditions.aspx

https://www.genome.gov/26524120