SEATTLE, July 19, 2010 — A Seattle-area mother and her four-month-old daughter represent a tiny number of births nationwide – perhaps among the first three in the entire county – using an emerging embryo-biopsy technology that could be the next major advancement in solving a medical problem plaguing millions of American women for decades: multiple miscarriages.

The new mother, Sheila Gruber, 34, of Duval, had suffered two consecutive miscarriages prior to undergoing a highly sophisticated form of in vitro fertilization (IVF) and chromosomal analysis that allows geneticists to examine unprecedented amounts of DNA – about one-fourth of the entire human genome, or 40 times more than possible with other technology – in eliminating severely flawed chromosomes that would cause subsequent miscarriages.

The technology – micro-array comparative genomic hybridization (aCGH) – has become widely available as a diagnostic tool only in the last 12 to 24 months, say Seattle fertility specialists at the Northwest Center for Reproductive Sciences (NCRS). Gruber’s birth is among the first three resulting from aCGH analysis performed by the New Jersey-based Reprogenetics, which claims to be first private genetics laboratory nationwide to bring the technology to market.

“In natural pregnancies, Mother Nature always attempts to produce a perfect embryo and discard all the rest,” said Klaus Wiemer, Ph. D., lab director at NCRS, the medical practice where Gruber was a patient. “Micro-array CGH could represent the largest step forward yet in finding the fastest, most effective way to identify the near-perfect embryo without the heartbreak of miscarriage.”

The promise of aCGH lies in scientists now being able to thoroughly assess all 24 chromosomes in an embryo no older than three days. Previous technology allowed scientists to analyze no more than a dozen chromosomes – a dramatic limitation since each chromosome is an organized structure of DNA, which in turn contains millions of bits of biological information.

Most embryos cannot survive if they are either missing or possessing an extra chromosome, a condition known as aneuploidy. The majority of anueploid embryos are spontaneously aborted, sometimes without even the mother’s knowledge. Among the others, the most common survivable form of aneuploidy is trisomy 21, an extra chromosome found in babies born with Down syndrome.

Another key advantage of micro-array aCGH is the process of hybridization. In this procedure, embryologists first create an embryo in the lab with the mother’s egg and father’s sperm. Within three days, geneticists retrieve a single cell from an embryo of from eight to 100 cells. The geneticists then copy the cell’s DNA billions of times. (In contrast, today’s most common fetal diagnostic tool, amniocentesis, gives scientists only thousands of cells to evaluate.)

Lab specialists then split in half the DNA helix – the twisted, double strands of simple biological units called nucleotides – and rejoin one strand from the embryo sample with another strand from a control DNA sourced from donors. By comparing the recombined strands, geneticists are able to obtain for the first time a statistically significant reading of the chromosomal health of the embryo.

“The old technology was like viewing the length of a football field through binoculars,” said Michael Opsahl, M.D., Gruber’s physician at NCRS. “The new technology gives us a telescope to peer across an entire galaxy.”

For Gruber, the breakthrough brought a mix of joy and relief: “We spent four long years struggling to carry a pregnancy to term before we found NCRS. Our daughter’s birth was simply miraculous.”

She is hardly alone. Recurrent pregnancy loss (RPL) is a medical condition defined as two consecutive miscarriages occurring at less than 20 weeks of gestation and affects 1 to 2 percent of all pregnancies. The normal miscarriage rate is 10 percent per pregnancy in women 30 and under, and as high as 55 percent for women 44 years old.