Pre-implantation genetics testing offers new hope to pregnancy challenged couples

For couples who have experienced recurrent miscarriages, unsuccessful IVF cycles or unexplained infertility; as well as women of advanced maternal age; new procedures are available in the form of a genetic diagnosis program designed to help achieve a successful pregnancy.

The Center for Preimplantation Genetics Diagnosis offers a high-tech procedure that selects healthy embryos that are free of chromosomal abnormalities and defects; thus raising the chances of conception and delivery of a healthy baby.

This state of the art procedure is done in lab along with an IVF treatment. After medication is given to the female to stimulate egg production an ultrasound guided needle is used to retrieve eggs from the ovaries. United with sperm, they are placed in an incubator for fertilization and growth to the 4-12 cell stage. One or two cells from each embryo will be biopsied and genetic testing begins.

The center then tests for chromosomal abnormalities like Down syndrome, Turner syndrome and/or Klinefelter syndrome. Testing is also done for single gene inherited defects like cystic fibrosis and/or sickle cell disease.

At this point only embryos free of defects and/or abnormalities would be transferred to the mother’s uterus between day 4 and 5 following egg retrieval.

According to The Center for Preimplantation Genetics Diagnosis,

“PGD technology reduces the potential for adverse pregnancy outcomes for couples ‘at risk’ by testing the embryos for certain genetic abnormalities before they are chosen for transfer back to the woman. For example: 10 embryos resulted from an IVF cycle and through PGD testing, six were identified as genetically abnormal and four were normal. Armed with this knowledge, only the normal embryos would be selected for embryo transfer thereby reducing the possibility of miscarriage or birth defects”.

An expert in the field of optimizing reproductive health for women and men, Cindy Ferda has released her newest book on conception entitled ‘How to Get Pregnant Quickly & Naturally’.

Determining the cause, symptoms and odds of miscarriage

For the latest pregnancy, health and conception tips visit Cindy Ferda’s National Examiner column here.

Miscarriage is the spontaneous loss of a pregnancy before the 20th week; usually occurring before the 12th week during the first trimester. The chances of miscarriage increase considerably as a woman ages. Some studies even suggest pregnancies from men older than 40 increases the odds of miscarriage as well. A miscarriage may occur because the embryo or fetus isn’t developing properly due to chromosomal abnormalities.

Signs and symptoms of miscarriage

Spotting or bleeding
Abdomen or lower back pain
Cramps
Vaginal fluid or tissue discharge
Fever (usually due to septic miscarriage)
Chills (usually due to septic miscarriage)
Body aches and pains (usually due to septic miscarriage)
Thick discharge with foul odor (usually due to septic miscarriage)

Causes of miscarriage

Miscarriage typically occurs due to embryonic abnormalities during the division and growth of the embryo during the first 12 weeks; not usually due to inherited issues from the parents. In some cases though, a mother with uncontrolled diabetes, uterine and cervix issues, thyroid disease, infections or hormonal problems may be at more of a risk of miscarriage.

Intrauterine Fetal Demise occurs when an embryo is present but there is no heartbeat and the embryo has died before there are any signs of miscarriage/pregnancy loss. This may be due to chromosomal and/or genetic abnormalities. This usually occurs during the first trimester.

Blighted Ovum is a very common cause of miscarriage, occurring when a fertilized egg develops a placenta and membrane but no embryo. This usually transpires during the first trimester.

Molar Pregnancy is more of a rarity and occurs in approximately 1 in 1000 pregnancies. Also known as Gestational Trophoblastic Disease, it is an abnormality of the placenta caused by an issue or problem at fertilization where the placenta develops into a fast-growing mass of cysts that may or may not contain an embryo.

Invasive prenatal testing such as CVS (chorionic villus sampling) and/or amniocentesis carry a slight risk of miscarriage. Smoking or consuming alcohol or drugs increases the risk of miscarriage greatly.

Determining miscarriage at the doctor’s office

During a pelvic exam, your doctor will check for cervical dilation. An ultrasound checks for the heartbeat and development of the embryo. Blood tests provide levels of the pregnancy hormone HCG and determination of placental tissue passing. If you have passed tissue and bring it in to your OB/GYN, it can be sent to the lab to confirm miscarriage.

Common medical miscarriage terms

Threatened Miscarriage occurs if you are spotting or bleeding but your cervix has not dilated. Some pregnancies remain viable even though they may be threatened initially.

Inevitable Miscarriage occurs when you are bleeding, your uterus is contracting and your cervix is dilated. Miscarriage is inevitable.

Incomplete Miscarriage occurs when some placental/fetal material passes but some remains in uterine.

Missed Miscarriage occurs when the placental/embryonic tissue remains but the embryo has died or not formed.

Complete Miscarriage is the most common of miscarriages. All pregnancy tissues have passed. Usually takes place within the first twelve weeks of pregnancy. The entire process may take up to four weeks if done naturally.

Septic Miscarriage is when an infection develops within the uterus. A severe infection, this must be handled by medical professionals immediately. Some signs include severe abdominal pain, fever, chills and vomiting.

Medical and surgical miscarriage treatment

After medically confirming pregnancy loss or the inevitable loss, there are medical treatments available that speed up the process and get one back on track quicker like oral medications or vaginal ointments to expel all remaining pregnancy tissue. Some side effects may include nausea, cramps and diarrhea. About 70% of women will bring miscarriage to a close within 24-48 hours.

A surgical procedure called suction dilation and curettage also known as D and C dilates your cervix and suctions the non-viable pregnancy tissues. Uterine walls may be gently scraped of unnecessary tissue as well. To stop the bleeding, a D and C procedure might be necessary for some women.

Recovery

After a miscarriage, whether natural or with medical assistance, recovery time varies. For some it may only be hours, for others a few days to weeks. Generally a period will return within 4-6 weeks. Women must watch for signs of infection throughout recovery and consult a doctor immediately if symptoms develop like fever, chills, severe pain and/or heavier than normal bleeding. Additionally, doctors advise no tampons, douching or sex for two weeks following a miscarriage.

Pregnancy after miscarriage

Most OB/GYN’s recommend waiting one menstrual cycle after a miscarriage to try and conceive again; however it is possible to become pregnant before the next cycle.

Doctors advise additional testing for women who have experienced two or more miscarriages to identify underlying problems and/or abnormalities. After addressing issues, more than 60% of women will go on to deliver healthy babies.

Pregnancy after 40

My only child is approaching his 21st Birthday, I’ve been happily married for eight great years and I decide at the ripe age of forty-three; that’s right a 4 and a 3 to embark on the ultimate journey of baby-making once again!

My husband’s AARP application arrived in the mail recently along with his firefighter retirement check – he just turned 50. He barely looks 40. I tell him it’s genetics, he jokes it’s from not having to raise a few kids.

I know how psyched my 20-year-old son is about having a sibling. He has no idea how psyched I am about having a free 20-year-old babysitter!

After years of mulling it over, hours of discussion, passionately over-analyzing the subject with no definitive resolution, questions arise; the brain goes on overload.

Do I really want to start the whole process again? Will we still be able to travel and work?

And what about raising the kid? Public or private school? Minivan or SUV?

Or as my husband says, Lions or Bears fan? Red Wings or Black Hawks? And how much is college going to be in the year 2026? Will we be cashing in the house for two semesters of college?

And who’s the designated babysitter when the free twenty-year-old gets tired of smelly diapers?

Our cat sitter is only $17 a day and that includes two feedings and one litter box clean-up; wonder if she’ll be available! Some other friends recently turned their loving dog-sitter Paula into their Nanny for their two babies.

Grandma Nancy’s out of service. She’s in Michigan helping with 17 grandkids at the over-ripe age of 82.

What if the little one is allergic to the cats? Who goes, the kid or the cats? What if we have multiples? Won’t even go there!

Here’s a horror story. Last time I had a baby my shoe size went up ½ size. If it happens again; so much for my Donald Pliner Snake-skin sandals.

Then there’s the boob issue; will they sag after nursing and droop like half-filled water balloons. I can always get a boob-job after breast-feeding and finance the kid’s college.

What about baby-proofing the house and sleep . . . ah sleep . . . I really enjoy my sleep . . . do I really want to give up the peace and quiet I’ve come to know and love for so many years since my twenty-year-old son last woke me to his final bout of middle of the night tears so many moons ago.

“Yes.” Absolutely. Bring in the troops. I have like 48 eggs left (okay, truth is, research indicates women over 35 have 25,000-90,000 eggs)… so let’s get the show on the road, remember, I’m 43 and counting! Send in the troops at least every other day. Let’s bravely forge ahead, (divide properly) and conquer!