Fertility 101: Case Studies
February 2010: Gestational Carriers
JK is 36 year old who came to Carolina Conceptions from South Carolina desiring to use a friend as a gestational carrier. JH and her husband had several pregnancies all end in second trimester losses due to an incompetent cervix. She had undergone a cervical and transabdominal cerclage in an attempt to hold her cervix closed. Unfortunately her cervix was too foreshortened due to a prior cone/LEEP procedure.
She underwent ovarian stimulation for in vitro fertilization. She produced 17 eggs and five days later two day 5 embryos were placed back into the uterus of the carrier who had been primed with estrogen and progesterone. She conceived and is now approximately 15 weeks pregnant with a singleton pregnancy. JK and her husband still have three frozen embryos. She socially visits the carrier weekly. The entire legal contract was completed by a local attorney that dictates that at birth JK and her husband will be the adoptive parents of their newborn. CONGRATS!
April 2009: Cystic Fibrosis and IVF
AC is a 34 year old female teacher who recently moved to the Triangle from Florida. She and her husband were known to be carriers of cystic fibrosis. She has done IVF in Miami without success. This had been accompanied by embryo biopsy. In February she and her husband embarked on an IVF cycle with Carolina Conceptions, hoping to do preimplantation genetic diagnosis. She was able to use the cystic fibrosis probes that had been previously used in her unsuccessful cycle. At the time of egg retrieval she produced over 20 eggs and on day 3 of culture her eight celled embryos were biopsied and two days later she had a transfer of two embryos, both carriers of cystic fibrosis trait, but unaffected. Four weeks later she was found to have a viable single embryo. She has sought obstetrical care with Dr. Stephenson in Cary, NC.
January 2009: IVF instead of tubal reversal is often easier
L.R., a 33 year old mother of three, had a tubal ligation with her last child in 2006 and very much wanted to have a fourth child. She had delivered all children by cesarean section and had a tubal ligation due to concerns about having a fourth cesarean. After consultation with another local obstetrician, it was decided that a fourth cesarean was possible. In an attempt to avoid further surgery, the patient sought consultation at Carolina Conceptions to consider in vitro fertilization (IVF) as opposed to a tubal reversal which would have involved a fifth abdominal procedure.
The patient was healthy with no notable medical problems. Benefits and risks of IVF versus tubal reversal were discussed. Costs of tubal reversal range from $5-15,000 and involve an abdominal incision and typically several weeks off work. Conception rates can reach 60-70% at one year after surgery. IVF costs $8-12,000, depending upon age of the patient and sperm quality. Conception rates are over 50% per embryo transfer and 40% for the transfer of frozen embryos. Days off work are usually no more that 2-3.
The patient underwent an IVF cycle using a dose of 225IU of fertility medications reaching a peak estradiol level of 936pg/ml. Seventeen eggs were retrieved, 13 fertilized with conventional IVF and two blastocysts were transferred five days after egg retrieval. Despite a low initial pregnancy test value of 25.8mIU/ml, the value continued to rise and the couple have an ongoing singleton gestation.
December 2008: Azoospermia
AB and her husband were trying to get pregnant for 4 years when they first came to Carolina Conceptions. Her husband was found to have azoospermia (absence of sperm) after a testicular biopsy. The couple decided to use donated sperm for IVF with ICSI. The first attempt at IVF was done at another clinic and resulted in a biochemical pregnancy. The second attempt at IVF was done at Carolina Conceptions, and this too resulted in a biochemical pregnancy. AB and her husband decided to try one more attempt at IVF. Fortunately, the third attempt resulted in a much higher hCG level than the previous attempts. At 6 weeks of pregnancy, AB was found to have a twin intrauterine pregnancy. One week later, she experienced right sided pelvic pain and went to the emergency room. An ultrasound revealed that there were now 3 pregnancies! Unfortunately, one was an ectopic within the right fallopian tube, and one of the two that were in the uterus stopped developing and had no heartbeat. We performed laparoscopic surgery to remove the right tube and ectopic pregnancy. Fortunately, the remaining viable pregnancy within the uterus survived the whole ordeal and AB and her husband have an ongoing pregnancy.
November 2008: Vasectomy Reversal and Antisperm Antibodies
CM is a 29 year old who recently moved from out of state to the area. She had never been pregnant and had been trying for 19 months. Her cycles were regular. She had undergone a LEEP procedure. Her husband was in good health but had undergone a vasectomy and a vas reversal several years ago. His semen analysis was normal. Her husband was tested for antisperm antibodies due to his vas deferens surgery. He had low percentages of IgM and IgG antisperm antibodies bound to the head of the sperm tested. After failing several cycles of clomid prior to being seen at Carolina Conceptions, and one cycle of super ovulation and insemination at Carolina Conceptions (he even collected his specimen in culture media in an attempt to dilute the antibody number), she pursued ICSI in the Shared Success Program. We hoped ICSI would obviate any fertilization problems the couple might have due to sperm antibodies as a result of interruption of the testicular blood immune barrier due to his prior vasectomy. Seven eggs were harvested and two blastocysts were transferred on day 5. Her initial pregnancy test was positive at 97mIU/ML.
April 2008: 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 ordered 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.