Finally, here is a research study which has something positive to say about advanced maternal age. Women who have babies the natural way (e.g. without the aid of assisted reproduction) late in life tend to live longer than other women. In fact, women who become pregnant at age 45 or older have a lower likelihood of dying soon after their 50^th birthday than women who deliver babies at the age of 40 or younger. Much more, it is not only the late fertile women who live longer, but their blood relatives as well.

Women are always warned, advised against having babies late in life. Advanced maternal age has been linked to a lot of pregnancy complications that present health risks to both mother and child. But it seems that once these hurdles are overcome, late-bearing women are actually rewarded with a longer lifespan. So what is it that makes them live longer.

The reason for the link between “late fertility” and longevity lie in the genes, accoridng to researchers at the University of Utah. In a study of health and family records of about 18,000 Utah and Quebec residents from the 1600s to the 1800s, late fertility in a female member of the family has been linked to longer lifespan to other family members. Brothers of women with late babies, for example, tend to live longer that those who didn’t have late-bearing sisters. However, while the brothers live longer, their wives didn’t (sisters-in-lwas aren’t blood relatives), indicating that environmental factors (good nutrition, healthy lifestyle) don’t play an important role in this aspect of longevity but genetic factors do.

Monday was my first OB appointment.  I’ve had many people ask me over the years exactly what happens at the first appointment? What can I expect?  Read on to find out!

The first appointment is usually at least an hour in length.  Plan ahead and find a sitter for younger children if possible.  If you are concerned about the length of the appointment, you may be able to shorten it by completing some of the paperwork ahead of time.  You can download forms off of some doctor’s websites for just this purpose.

The first thing that happens at your appointment is that the nurse will ask you for a urine sample.  Usually, they test for protein or sugar in your urine.  Most offices also do a pregnancy test to confirm your pregnancy.  After this comes the part I dislike–they WEIGH you.  In fact, I dislike being weighed so much that I requested that they weigh me backwards! They complied.

After this, a nurse went over my family history and health history.  She asked about my husband’s family as well.  If you have had any pregnancies and deliveries before, they’ll ask about that.  Since I am of–ahem–advanced maternal age, they requested that I consider going for genetic counseling.   I declined the blood testing they offered to test for genetic problems because I’ve seen too many friends worry about false positives.  I asked if I could get a high resolution ultrasound to look for markers for Down’s Syndrome instead. They said yes.  I declined an amniocentesis test.

They took blood from me to test for different things like HIV,  which is pretty routine.

They did a quick physical and asked if they could do a Pap test.  I declined simply because I tend to bleed and I knew it would worry me, especially with my history of miscarriage.

Then they offered to do an ultrasound to see that the baby was where he or she should be and that everything “looked” ok.  I agreed.  They did an ultrasound on my stomach but really couldn’t see much because I am only 8 weeks along.  I agreed to a vaginal ultrasound.  We could see the baby and the sac.  We could see the heart fluttering too.  They printed out my child’s first picture for me to take home!

The doctor was careful to remind me that I still have about 4 weeks left to go until the first trimester is over, until then, my risk of miscarriage is still high.

For now, we wait an hope that I’ll be able to “keep” that OB appointment in February!

One-third of couples have trouble conceiving because of male infertility, and in order to conceive must rely on donor sperm and in vitro fertilization. But advances in the study of artificial sperm may change all of that, allowing a father to have a biological connection to his child.

In 2006 a German medical team successfully created artificial sperm in a lab from the embryonic stem cells of mice harvested from their bone marrow. Professors Nayernia and a team of genetic scientists at the Georg-August Unviersity in Gottingen, Germany were able to successfully separate stem cells that had started to turn into sperm. The sperm was grown into adult sperm and injected into the eggs of female mice through in-vitro fertilization. The fertilized eggs were then transplanted into female mice, and after the standard gestational period, the female mice gave birth to seven baby mice of which all but one survived. At the time, Professor Nayernia, was quoted as having said, “This will help us to understand how men produce sperm and why some men are unable to do this. If we understand this we can treat infertility in men.”

The mice born from the original study did however exhibit problems including unusual growth patterns and respiratory problems as Medical News Today reported in 2006.

In the two years since, Dr. Wolfgang Engel, director of Human Genetics at the university, has repeated the experiment on a larger scale and with very early cells called germ cells, which are taken directly from the testes. Through this method, the researchers on his team have created 65 mouse fetuses through in-vitro fertilization with artificial sperm. The fetuses have had a high mortality rate with only 12 of the 65 reaching full-term birth. Of those 12, even of the newborn animals died within a period ranging from three days to five months of causes which the team has yet been able to identify. Regarding the mortality rate, in a report from the Australian paper The Age, Engel stated that “you can see that this is all still in the very early experimental stages.”

This new advancement in the research could still be great news for infertile couples since using sperm created from embryonic stem cells is much like using donor sperm where the father has no biological tie to the offspring. Engel, who has had success with in-vitro fertilization with testicular germ cells in mice believes that the process could also work with human testicular germ cells, which at the very least will help researchers understand the causes of infertility in men. Even if producing a child through this method may be years away, Engel is optimistic. “If it works in the mouse, I’m sure it will also work in the human,” Engel says in another recent report.

Dr. Engel’s next challenge is to grow sperm taken from a female germ cell, which could then be used to fertilize another woman’s egg. Creating artificial sperm in this manner would give both partners in a lesbian couple, for example biological ties to the child, if the procedure were successful.

Engel’s research is not without its critics who oppose it on moral and ethical grounds both in Europe and in the United States. In the Australian report, Dr. Engel said his team will stop short of tests on humans in compliance with federal law in Germany which bans all genetic research using human stem cells. But after recent changes in the United Kingdom?s Human Fertilization and Embryology bill as reported by the Observer, one member of Engel?s team has gone to Newcastle, England, to conduct research on artificial human sperm. While success on human subjects will not be without controversy, it will offer new possibilities for infertile and same gender couples seeking to start a family.

A new product at your local pharmacy is selling like hotcakes. It`s the Home DNA Paternity Test from Identigene, a ?do-it-yourself? paternity test kit available over-the-counter.

Here`s how it works: Cell samples are collected from the inside of the cheeks using swabs provided in the kit. Cell samples from the father and from the child are collected separately. The samples are then mailed to an accredited lab where genetic tests are performed. Results are available by phone, online or by mail.

So far, so good.

Now comes the tricky parts, mainly dealing with the following questions:

• How accurate is the test?
• How will it stand up in a court of law?
• Who is buying such kits?
• What are the consequences of such a test?

Accuracy
The report comes back with a probability figure ? the likelihood of paternity. Identigene claims it ?routinely provides results probabilities greater than 99.99%?, thus providing conclusive proof of genetic relationship. However, self-collected samples are not foolproof. There is always the risk of contamination and fraud.

Legal issues
Some experts say there is no guarantee that such a test result will stand up in court. It may be admissible as evidence but the jury needs to be fully convinced of its accuracy for it to serve its purpose. There are, however, other such tests developed mainly for forensic purposes.

Users
Custody, inheritance, child support, divorce, or simple curiosity. These are just a few issues that push people to buy and use the test kit.

Consequences
Clearly, the test is meant for private purposes only. But the results can have far-reaching consequences. Broken relationships, broken homes, broken hearts ? these might be just a few negative consequences that such a test may bring. Though to be fair, something positive may also come out of it ? reunions, putting things right, getting justice, or just plain peace of mind.

The test is here. It is simply a man-made tool that we can use to answer questions. In the end, it`s our own decision and judgment that count.

Sources:

MSNBC 27 March 2008

Identigene

Just when I thought I know everything there is to know about identical twins, comes this new revelation. It seems that identical twins, previously thought to have 100% genetic resemblance, are anything but identical.

A group of researchers from the US, the Netherlands, and Sweden studied the genetic make up of 19 pairs of identical twins. They found that there are subtle but clear differences between the DNA of these twin pairs. These variations may be due to differences that occur during genetic copying and to mutations. In most cases, these slight differences have no observable effect in the physical and developmental make up of the twins. In some cases, however, these variations can make a world of difference health-wise. And we are not talking only about simple ailments but also serious and debilitating diseases as Parkinson`s and cancer.

Doctors were always puzzled how one twin can develop a disorder or disease and the other not. They`ve always attributed these differences to environmental factors. In the case of my twin boys, F developed eczema and asthma while R didn`t. And I`ve always asked myself, where did I do wrong? Have I somehow neglected one and favor the other? After all, I, the mom, am responsible for a lot of these so-called environmental factors, from food, to beds, to toys and baby products. It`s a relief to know that genetics, something beyond my control, plays a role in all of these.

But now, I`m at loss. With this new discovery, the the term ?identical twins? has become a misnomer. Monozygotic would be a more appropriate term but who would understand that? The next time somebody asks me whether my boys are identical, how do I respond?

Source:

Bruder et al., 2008. Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy- Number-Variation Profiles,

The American Journal of Human Genetics (2008), doi:10.1016/j.ajhg.2007.12.011.