A patient receives an ultrasound before a new genetic test for potential fetus abnormalities Oct. 4 at obstetrician Susan Klugman's office in Scarsdale, N.Y.(Photo: Carucha L. Meuse, The (Westchester, N.Y.) Journal News)
WESTCHESTER, N. Y. -- A new test, called chromosomal microarray
technology, is providing doctors and prospective parents with more
information than ever before about the genetic makeup of a baby still in
But what that knowledge actually means is not always clear, causing confusion and anxiety for parents and physicians.
Michelle Catalano had no reason to think her fourth baby wouldn't be born as healthy as her other three.
because the Eastchester, N.Y., resident was 36 -- a year into the
territory obstetricians ominously describe as "advanced maternal age" --
she was given the option of using the new technology to test whether
her baby was developing free of genetic defects that could signal
"It's an evolving technology," said David Kronn, chief of
medical genetics at Maria Fareri Children's Hospital at Westchester
Medical Center in Valhalla, N.Y. The results, he said, aren't always cut
Susan Klugman, an obstetrician in Larchmont and
Yonkers, N.Y., and 300 of her patients recently took part in a
nationwide study of chromosomal microarray technology to determine how
effective the method is.
"This zooms down and looks at the
specific genetic material in the chromosomes to make sure nothing is
missing or nothing is extra," said Klugman, director of reproductive
genetics at Montefiore Medical Center and an associate professor at
Albert Einstein College of Medicine.
Initial results of the study
submitted early this year at the Society for Maternal-Fetal Medicine
showed that prenatal chromosomal microarray technology can detect more
genetic abnormalities than current methods.
Klugman now offers the test to select patients in her practice.
Even as the test grows in use, experts caution that it may raise more questions than it answers.
capacity to test and our capacity to make sense of the results are not
well-aligned," said Nyack, N.Y., resident Rachel Grob, who has done
research into genetics, advocacy and the social impact of technological
She recently wrote a book, Testing Baby: The Transformation of Newborn Screening, Parenting and Policymaking, that examines the unintended consequences of obtaining genetic information at and before birth.
microarray involves looking at tiny pieces of DNA to detect small
duplications or missing pieces of each chromosome. By doing that, the
test can identify mutations linked to more than 150 disorders that
result in developmental and physical abnormalities.
The test is
more detailed than the current technology, called karyotyping. Both
involve taking a sample from the amniotic sac or from the placenta --
methods that involve a degree of risk to the growing fetus.
Costing about $1,500 -- the same as similar tests -- an increasing number of insurers are covering it.
chromosomal microarray is more detailed than current tests, it
sometimes reveals abnormalities on chromosomes that aren't linked to any
"Even if there is an abnormal finding, it may not be clinically significant," Kronn said.
people have minor defects on their chromosomes that are harmless.
Before the advent of technology like chromosomal microarray, most of
those people never even knew it.
"It's such (a) powerful technique, but sometimes we don't know what the information means," Kronn said.
It is difficult for physicians to counsel patients when the results are unclear.
"Patients are grappling with very difficult decisions," Klugman said.
Catalano started having second thoughts about the test almost as soon as amniotic fluid was drawn from her uterus.
"Do I really want to know everything this is going to tell me?" she recalled.
was a tough two weeks before she got the news: Her baby was fine. Luca
Catalano arrived several months later -- healthy, as expected.
the test becomes more widely used, an increasing number of women will
have to grapple with the issue of a powerful genetic test that sometimes
delivers puzzling results.
That creates a "heavy burden" for families, Grob said.
we had all this technology we had babies and we dealt with the hand we
received," she said. "We didn't feel responsible for having to decide to
terminate a pregnancy or choosing to have a child with a disability."
By the numbers
35: The age obstetricians consider to be the start of "advanced maternal age"
150: Number of disorders linked to mutations that can be discovered by chromosomal microarray genetic testing
$1,500: The approximate cost of chromosomal microarray genetic testing and other similar tests
Jane Lerner, The (Westchester, N.Y.) Journal News