Our Patients
April 08: Cystic Fibrosis and Embryo Biopsy
In February 2007, a 30 year old patient and her husband came to Carolina Conceptions regarding the possibility of preimplantation genetic diagnosis. She had undergone elective termination due to having conceived a fetus determined to have cystic fibrosis. She was found to be a carrier of the R 117H mutation, and he was a carrier of the more common delta F 508 mutation. Since both were carriers, they stood a one in four chance of having an affected child. After a second spontaneous conception ended in termination due to another affected fetus, they elected to proceed with embryo biopsy. Genetic linkage studies were done on their parents.
In February 2008 the couple underwent IVF with intracytoplasmic sperm injection. Seven normal appearing embryos were produced from 12 harvested eggs from in vitro fertilization done under conscious sedation in our clinic. Her embryos were biopsied on the third day of culture and a single cell from each embryo was sent to Reprogenetics for analysis. She then had two blastocysts transferred back on day 5 of culture based on the results. One of the embryos was known to be a carrier of the CF mutation, and the second was totally unaffected. She became pregnant and in April her obstetrical ultrasound confirmed one viable fetus and one non viable one. She will undergo CVS or early amniocentesis to confirm the results obtained with her embryo biopsy.
January 08
JK is a 32 year woman who came to our office in July complaining of no periods after having a D and C after a miscarriage. She had normal thyroid and prolactin levels. Her gynecologist thought that she might have Asherman’s syndrome and order a hysterosalpinogram (HSG) to determine if her uterine cavity had scar tissue within it. Unfortunately the HSG demonstrated that over ¾‘s of her uterus was filled with adhesions. She was scheduled for hysteroscopic removal of scar tissue at REX out patient surgery. Using sharp hysteroscopic scissors the bands of scar tissues were incised. She went home the same day after an hour procedure. She was placed on estrogen and progesterone for one month after the surgery. Her periods then resumed themselves monthly. In December she was noted to have an eight week intrauterine pregnancy. She will be followed by her referring obstetrician with a watchful eye.
May 2007: Preimplantation Genetic Diagnosis
Preimplantation Genetic Diagnosis (PGD) is a technique used in conjunction with in vitro fertilization (IVF) to test embryos for genetic disorders before the embryos are transferred into the uterus. For couples who are carriers of serious genetic disorders such as cystic fibrosis or Duchenne muscular dystrophy, PGD is a way to decrease the risk of having a child affected with one of these serious diseases. PGD is also a way to screen embryos for chromosomal abnormalities such as Down syndrome or trisomy 18 which occur with greater frequency as women age.
At Carolina Conceptions, we offer PGD for the above reasons. Currently, 3 out of five of our embryos biopsy couples are pregnant.
1) Our first patient, A.R., is a 27 year old woman who initially conceived promptly with her husband without any fertility assistance. Unfortunately, their son, who was born at term, died at 5 months of age from spinal muscular atrophy (SMA), a fatal neuromuscular disorder. Neither mom nor dad knew that they were carriers of this genetic disease until the death of their son. This couple wanted to try anything to avoid the death of another child. They approached us at Carolina Conceptions to undergo IVF and PGD for this single gene defect. Sixteen eggs matured and were retrieved, 5 embryos were biopsied and two embryos were transferred. Fortunately, she is currently pregnant at 16 weeks gestation. Amniocentesis is recommended even after embryo biopsy to assure a normal baby.
2) Our second patient is a 33 year old female with 15 months of infertility and a normal evaluation with the exception of low sperm motility. Since the patient needed IVF and ICSI (intracytoplasmic sperm injection) to help insert a sperm into each egg, they wanted to guarantee as best they could that the embryos that were transferred into the uterus would be normal. Therefore, they chose to undergo PGD. Surprisingly at such a young age, only 1 of the 9 embryos biospied were normal. That single embryo was transferred and the couple is currently pregnant with their first child. Their remaining embryos had abnormalities such as trisomy 13 (an extra chromosome number 13) and tetraploid ( 4 copies of all the genetic material instead of the normal 2 copies).
Preimplantation genetic diagnosis, although not without error, is a way to avoid serious genetic illnesses and transfer healthy embryos into the patient’s uterus.
November 2006
WK is a 29 year old Caucasian woman with no prior pregnancies who has failed to conceive with her husband despite 2 years of timed intercourse. Her evaluation included a normal HSG with bilateral tubal patency and a normal hormonal profile. Her husband underwent testing by Dr Steve Shaban and was found to be azoospermic (no sperm in the ejaculate) and a repeat analysis was confirmatory. Cystic fibrosis testing demonstrated that he was a carrier for the Delta F508 mutation which had resulted in bilateral obstruction of the vas deferens and testicular biopsy was performed. Immature sperm were noted and the tissue was frozen and stored at Carolina Conceptions in preparation for an IVF cycle.
His wife underwent cystic fibrosis screening and 103 mutations were tested and she was ruled out as an asymptomatic carrier. She underwent ovarian stimulation and under our nurse anaesthetist’s care she underwent an egg aspiration. The mature eggs underwent intracytoplasmic sperm injection (ICSI) with sperm taken directly out of the testicle and two blastocysts were transferred on the 5th day of extended in vitro culture in our on site lab. The remaining blastocysts were vitrified for later use. Her initial pregnancy test was positive and on Nov 20th she underwent an ultrasound demonstrating a twin pregnancy. |
