Gorovitz & Borten, P.C.
Attorneys at Law

550 Cochituate Road, Suite 25
Framingham, Massachusetts
Tel: (781) 890-9095
Down's Syndrome
Down's syndrome, also known as Trisomy 21, is a genetic disorder caused by the
appearance of an extra (third) chromosome 21 instead of just two chromosomes.
Normally, each person has 23 pairs of chromosomes with each chromosome in a
pair coming from each parent. Fertilization between an affected egg and sperm
leads to an abnormal division of chromosomes resulting in a fertilized embryo with
47 chromosomes (46 plus the extra copy of chromosome 21). In the majority of
cases, the abnormal cell division affects all the tissues in the body. When the
trisomy 21 is present in some but not all cell lines, the variant is called 'Mosaic
Down Syndrome' which is associated with less developmental delay than a full
trisomy 21.

Down's syndrome is a relatively common birth defect. It occurs in approximately 1 in
150 conceptions. Rates of Down's syndrome increase with maternal age. Accepted
incidence of 1 in 1,250 at age 25, increases to 1 in 1,000 at age 30, to 1 in 400 at
age 35, to 1 in 100 at age 40 and 1 in 35 at age 45. Diagnosis of Down's syndrome
can be made early during a pregnancy to allow the parents to determine whether
would prefer to carry the pregnancy to term. Down's syndrome is associated with a
number of major disorders which include:

  • Heart malformations
  • Duodenal atresia
  • Congenital aganglionic megacolon (Hirschsprung disease)
  • Acute leukemia
  • Impaired immune response
  • Ophthalmic problems
  • Urogenital abnormalities
  • Endocrine abnormalities

Individuals with Down's syndrome have some characteristic which include:

  • Short stature
  • Short neck
  • Flattened facial profile
  • Low nasal bridge
  • Epicanthal fold
  • Mild to moderate mental retardation

Historically, screening for Down's syndrome was reserved for women age 35 or
older at the time of birth. In reality, because younger women have more babies,
80% of babies born with Down's syndrome are born to mothers younger than 35
yeas of age at birth. The American College of Obstetricians and Gynecologists
(ACOG) recommends that all pregnant women, regardless of their age, be offered
screening for Down's syndrome. Prenatal screening for Down's syndrome include:

  • Ultrasound (nuchal translucency)
  • Tests of serum markers (blood tests)

Screening ultrasound evaluation of a fetus for physical traits of Down's syndrome is
performed during the first trimester of pregnancy. A sonolucent area in the back of
the neck is usually present in the third trimester of pregnancy. Measurement of this
clear fold of tissue behind the baby's neck by ultrasound between 11 and 14 weeks
of gestation should be less than 3 mm. Any increase in nuchal translucency greater
than 3 mm indicates that the risk of some genetic disorder, including down's
syndrome, is increased.

Another screening test involves the measurement of some substances in the
maternal blood along with maternal age and gestational age. These tests have to
be performed between 15 and 22 weeks of gestation to increase the validity of the
results. Measurement of alpha fetoprotein (AFP), human chorionic gonadotropin
(hCG) and unconjugated estriol (uE3) is known as 'Triple marker'; the addition of
the measurement of inhibin A increased the accuracy of the results and is called
"Quadruple marker'.

Like all screening tests, results must be cautiously interpreted and confirmed by
additional diagnostic testing. A diagnostic tests are used to confirm or rule out a
chromosomal abnormality, including Down's syndrome. Diagnostic tests include:

  • Chorionic villus sampling (CVS)
  • Amniocentesis
  • Percutaneous umbilical blood sampling (PUBS)

Chorionic villus sampling (CVS) is performed between 8 and 12 weeks of gestation.
Amniocentesis is performed between 16 and 20 weeks of gestation. Percutaneous
umbilical blood sampling (PUBS) is performed after 20 weeks of gestation. The
American College of Obstetricians and Gynecologists (ACOG) also recommends
that women of all ages have the option to bypass screening and choose a
diagnostic test for Down's syndrome.

If your child suffers from Down's syndrome (trisomy 21)  and you were not given the
option to undergo screening, genetic counseling and/or genetic testing,
Dr. Borten
and the  Boston area medical malpractice attorneys at Gorovitz & Borten can help
you assert your rights and get the compensation you deserve.
Contact Information
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