Loker STAF ADMIN GAJI BESAR

 The first diagnostic test available, which is done by sampling the placenta, is called chorionic villus sampling. It's available as early as 10 weeks. However, amniocentesis, the other diagnostic option which samples the amniotic fluid, isn't recommendedf pregnancy, and the results can take several weeks to come back. That puts many people in the same position as the Renées – finding out around 18 weeks that their fetus has a serious genetic condition, including ones that are fatal.

There are also developmental issues that aren't apparent until even later in pregnancy, Vora explains. An "anatomy scan" ultrasound is usually done around 20 weeks, and can find abnormalities of the heart, spinal cord, brain, and other organs.

She says often patients come to that ultrasound appointment excited, with no idea there's anything wrong. "Unfortunately, we do have to sort of drop bombs on patients who come in – sometimes they just think everything's normal, they think they're going to find out the gender, and then there's an anomaly," Vora says.

It can take time for people to process the information. As much as they can, doctors will try to help patients understand what is wrong and what that means, but often there is imperfect information.

There are conditions where the prognosis can be good – depending on severity of symptoms and the support available to them, patients can thrive, she says. More serious conditions can require extensive medical interventions throughout a person's life, and that care comes with to the family.

Then there are "life limiting" conditions – meaning the infant might be stillborn or die within a few hours or days of birth. If parents opt to continue a pregnancy in these cases, Vora tells them about palliative care options to make their newborn's short life as comfortable as possible.

Still others are considered "gray diagnoses," where it's very hard to know the severity or prognosis for each case in utero. Parents who receive any fetal diagnosis face a lot of uncertainty about exactly how the disorder will manifest in their child and what it will mean for the family.

When parents live in a state with a gestational limit on abortion, they may not have much time to decide what to do, Vora says. "Now, artificially, it is becoming a fast process," she says. "That's very difficult for people."

The impact: The days after Sam and Karla Renée received the diagnosis were "a frenzy of research" into monosomy 18p, Karla says.

There is not a lot of information available about this particular disorder – Karla says her ob-gyn had never heard of it. According to the the condition is characterized by head and face malformations, and other physical and mental disabilities that vary depending on how much of the chromosome is missing. In the most severe cases, the fetus can have brain malformation and die in infancy.